Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA): description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change: description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method: The method used for the clinical classification of this variant.
All options:
- ACMG
- ACGS
- EAHAD-CFDB
- ENIGMA
- IARC
- InSiGHT
- kConFab
- other
Clinical classification: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
- pathogenic
- pathogenic (dominant)
- pathogenic (recessive)
- pathogenic (!)
- pathogenic (maternal)
- pathogenic (paternal)
- likely pathogenic
- likely pathogenic (dominant)
- likely pathogenic (recessive)
- likely pathogenic (!)
- likely pathogenic (maternal)
- likely pathogenic (paternal)
- VUS
- VUS (!)
- likely benign
- likely benign (dominant)
- likely benign (recessive)
- likely benign (!)
- likely benign (maternal)
- likely benign (paternal)
- benign
- benign (dominant)
- benign (recessive)
- benign (!)
- benign (maternal)
- benign (paternal)
- conflicting
- association
- NA
DNA change (genomic) (hg19): HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38): HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN: description of the variant according to ISCN nomenclature
DB-ID: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID: ID of variant in ClinVar database
dbSNP ID: the dbSNP ID
Origin: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
- Germline
- De novo
- Germline/De novo (untested)
- Somatic
- Uniparental disomy
- Uniparental disomy, maternal allele
- Uniparental disomy, paternal allele
- CLASSIFICATION record
- SUMMARY record
- In vitro (cloned)
- In silico
- animal model
- Artefact
- DUPLICATE record
- Unknown
- Not applicable
Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
- ? = unknown
- yes = segregates with phenotype
- no = does not segregate with phenotype
- - = not applicable
Frequency: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
- DNA
- RNA = RNA (cDNA)
- protein
- ? = unknown
Technique: technique(s) used to identify the sequence variant.
All options:
- ? = unknown
- ARMS = amplification refractory mutation system
- arrayCGH = array for Comparative Genomic Hybridisation
- arrayMET = array for methylation analysis
- arraySEQ = array for resequencing
- arraySNP = array for SNP typing
- arrayCNV = array for Copy Number Variation (SNP and CNV probes)
- ASO = allele-specific oligo hybridisation
- BESS = Base Excision Sequence Scanning
- CMC = Chemical Mismatch Cleavage
- COBRA = Combined Bisulfite Restriction Analysis
- CSCE = Conformation Sensitive Capillary Electrophoresis
- CSGE = Conformation Sensitive Gel Electrophoresis
- ddF = dideoxy Fingerprinting
- DGGE = Denaturing-Gradient Gel-Electrophoresis
- DHPLC = Denaturing High-Performance Liquid Chromatography
- DOVAM = Detection Of Virtually All Mutations (SSCA variant)
- DSCA = Double-Strand DNA Conformation Analysis
- DSDI = Detection Small Deletions and Insertions
- EMC = Enzymatic Mismatch Cleavage
- expr = expression analysis
- FISH = Fluorescent In-Situ Hybridisation
- FISHf = fiberFISH
- HD = HeteroDuplex analysis
- HPLC = High-Performance Liquid Chromatography
- IEF = IsoElectric Focussing
- IHC = Immuno-Histo-Chemistry
- Invader = Invader assay
- MAPH = Multiplex Amplifiable Probe Hybridisation
- MAQ = Multiplex Amplicon Quantification
- MCA = Melting Curve Analysis, high-resolution (HRMA)
- microscope = microscopic analysis (karyotype)
- microsat = microsatellite genotyping
- minigene = expression minigene construct
- MIP = Molecular Inversion Probe amplification
- MIPsm = single molecule Molecular Inversion Probe amplification
- MLPA = Multiplex Ligation-dependent Probe Amplification
- MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
- MS = mass spectrometry
- Northern = Northern blotting
- NUC = nuclease digestion (RNAseT1, S1)
- OM = optical mapping
- PAGE = Poly-Acrylamide Gel-Electrophoresis
- PCR = Polymerase Chain Reaction
- PCRdd = PCR, digital droplet
- PCRdig = PCR + restriction enzyme digestion
- PCRh = PCR, haloplex
- PCRlr = PCR, long-range
- PCRm = PCR, multiplex
- PCRms = PCR, methylation sensitive
- PCRq = PCR, quantitative (qPCR)
- PCRrp = PCR, repeat-primed (RP-PCR)
- PCRsqd = PCR, semi-quantitative duplex
- PE = primer extension (APEX, SNaPshot)
- PEms = primer extension, methylation-sensitive single-nucleotide
- PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
- PTT = Protein Truncation Test
- RFLP = Restriction Fragment Length Polymorphisms
- RT-PCR = Reverse Transcription and PCR
- RT-PCRq = Reverse Transcription and PCR, quantitative
- SBE = Single Base Extension
- SEQ = SEQuencing (Sanger)
- SEQb = bisulfite SEQuencing
- SEQp = pyroSequencing
- SEQms = sequencing, methylation specific
- SEQ-ON = next-generation sequencing - Oxford Nanopore
- SEQ-NG = next-generation sequencing
- SEQ-NG-RNA = next-generation sequencing RNA
- SEQ-NG-H = next-generation sequencing - Helicos
- SEQ-NG-I = next-generation sequencing - Illumina/Solexa
- SEQ-NG-IT = next-generation sequencing - Ion Torrent
- SEQ-NG-R = next-generation sequencing - Roche/454
- SEQ-NG-S = next-generation sequencing - SOLiD
- SEQ-PB = next-generation sequencing - Pacific Biosciences
- SNPlex = SNPlex
- Southern = Southern blotting
- SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
- SSCAf = fluorescent SSCA (SSCP)
- STR = Short Tandem Repeat
- TaqMan = TaqMan assay
- Western = Western blotting
- - = not applicable
Tissue: tissue type used for analysis
Remarks: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks: remarks about the individual
Gender: gender individual
All options:
- ? = unknown
- - = not applicable
- F = female
- M = male
- rF = raised as female
- rM = raised as male
Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
- no = non-consanguineous parents
- yes = consanguineous parents
- likely = consanguinity likely
- ? = unknown
- - = not applicable
Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
- ? (unknown)
- - (not applicable)
- Afghanistan
- (Afghanistan)
- Albania
- (Albania)
- Algeria
- (Algeria)
- American Samoa
- (American Samoa)
- Andorra
- (Andorra)
- Angola
- (Angola)
- Anguilla
- (Anguilla)
- Antarctica
- (Antarctica)
- Antigua and Barbuda
- (Antigua and Barbuda)
- Argentina
- (Argentina)
- Armenia
- (Armenia)
- Aruba
- (Aruba)
- Australia
- (Australia)
- Austria
- (Austria)
- Azerbaijan
- (Azerbaijan)
- Bahamas
- (Bahamas)
- Bahrain
- (Bahrain)
- Bangladesh
- (Bangladesh)
- Barbados
- (Barbados)
- Belarus
- (Belarus)
- Belgium
- (Belgium)
- Belize
- (Belize)
- Benin
- (Benin)
- Bermuda
- (Bermuda)
- Bhutan
- (Bhutan)
- Bolivia
- (Bolivia)
- Bosnia and Herzegovina
- (Bosnia and Herzegovina)
- Botswana
- (Botswana)
- Bouvet Island
- (Bouvet Island)
- Brazil
- (Brazil)
- British Indian Ocean Territory
- (British Indian Ocean Territory)
- Brunei Darussalam
- (Brunei Darussalam)
- Bulgaria
- (Bulgaria)
- Burkina Faso
- (Burkina Faso)
- Burundi
- (Burundi)
- Cambodia
- (Cambodia)
- Cameroon
- (Cameroon)
- Canada
- (Canada)
- Cape Verde
- (Cape Verde)
- Cayman Islands
- (Cayman Islands)
- Central African Republic
- (Central African Republic)
- Central Europe
- Chad
- (Chad)
- Chile
- (Chile)
- China
- (China)
- Christmas Island
- (Christmas Island)
- Cocos (Keeling Islands)
- (Cocos (Keeling Islands))
- Colombia
- (Colombia)
- Comoros
- (Comoros)
- Congo
- (Congo)
- Cook Islands
- (Cook Islands)
- Costa Rica
- (Costa Rica)
- Cote D'Ivoire (Ivory Coast)
- (Cote D'Ivoire (Ivory Coast))
- Croatia (Hrvatska)
- (Croatia (Hrvatska))
- Cuba
- (Cuba)
- Cyprus
- (Cyprus)
- Czech Republic
- (Czech Republic)
- Denmark
- (Denmark)
- Djibouti
- (Djibouti)
- Dominica
- (Dominica)
- Dominican Republic
- (Dominican Republic)
- East Timor
- (East Timor)
- Ecuador
- (Ecuador)
- Egypt
- (Egypt)
- El Salvador
- (El Salvador)
- England
- (England)
- Equatorial Guinea
- (Equatorial Guinea)
- Eritrea
- (Eritrea)
- Estonia
- (Estonia)
- Ethiopia
- (Ethiopia)
- Falkland Islands (Malvinas)
- (Falkland Islands (Malvinas))
- Faroe Islands
- (Faroe Islands)
- Fiji
- (Fiji)
- Finland
- (Finland)
- France
- (France)
- Gabon
- (Gabon)
- Gambia
- (Gambia)
- Georgia
- (Georgia)
- Germany
- (Germany)
- Ghana
- (Ghana)
- Gibraltar
- (Gibraltar)
- Greece
- (Greece)
- Greenland
- (Greenland)
- Grenada
- (Grenada)
- Guadeloupe
- (Guadeloupe)
- Guam
- (Guam)
- Guatemala
- (Guatemala)
- Guiana, French
- (Guiana, French)
- Guinea
- (Guinea)
- Guinea-Bissau
- (Guinea-Bissau)
- Guyana
- (Guyana)
- Haiti
- (Haiti)
- Heard and McDonald Islands
- (Heard and McDonald Islands)
- Honduras
- (Honduras)
- Hong Kong
- (Hong Kong)
- Hungary
- (Hungary)
- Iceland
- (Iceland)
- India
- (India)
- Indonesia
- (Indonesia)
- Iran
- (Iran)
- Iraq
- (Iraq)
- Ireland
- (Ireland)
- Israel
- (Israel)
- Italy
- (Italy)
- Jamaica
- (Jamaica)
- Japan
- (Japan)
- Jordan
- (Jordan)
- Kazakhstan
- (Kazakhstan)
- Kenya
- (Kenya)
- Kiribati
- (Kiribati)
- Korea
- (Korea)
- Korea, North (People's Republic)
- (Korea, North (People's Republic))
- Korea, South (Republic)
- (Korea, South (Republic))
- Kosovo
- (Kosovo)
- Kuwait
- (Kuwait)
- Kyrgyzstan (Kyrgyz Republic)
- (Kyrgyzstan (Kyrgyz Republic))
- Laos
- (Laos)
- Latvia
- (Latvia)
- Lebanon
- (Lebanon)
- Lesotho
- (Lesotho)
- Liberia
- (Liberia)
- Libya
- (Libya)
- Liechtenstein
- (Liechtenstein)
- Lithuania
- (Lithuania)
- Luxembourg
- (Luxembourg)
- Macau
- (Macau)
- Macedonia
- (Macedonia)
- Madagascar
- (Madagascar)
- Malawi
- (Malawi)
- Malaysia
- (Malaysia)
- Maldives
- (Maldives)
- Mali
- (Mali)
- Mallorca
- (Mallorca)
- Malta
- (Malta)
- Marshall Islands
- (Marshall Islands)
- Martinique
- (Martinique)
- Mauritania
- (Mauritania)
- Mauritius
- (Mauritius)
- Mayotte
- (Mayotte)
- Mexico
- (Mexico)
- Micronesia
- (Micronesia)
- Moldova
- (Moldova)
- Monaco
- (Monaco)
- Mongolia
- (Mongolia)
- Montserrat
- (Montserrat)
- Morocco
- (Morocco)
- Mozambique
- (Mozambique)
- Myanmar
- (Myanmar)
- Namibia
- (Namibia)
- Nauru
- (Nauru)
- Nepal
- (Nepal)
- Netherlands
- (Netherlands)
- Netherlands Antilles
- (Netherlands Antilles)
- Neutral Zone (Saudia Arabia/Iraq)
- (Neutral Zone (Saudia Arabia/Iraq))
- New Caledonia
- (New Caledonia)
- New Zealand
- (New Zealand)
- Nicaragua
- (Nicaragua)
- Niger
- (Niger)
- Nigeria
- (Nigeria)
- Niue
- (Niue)
- Norfolk Island
- (Norfolk Island)
- Northern Ireland
- (Northern Ireland)
- Northern Mariana Islands
- (Northern Mariana Islands)
- Norway
- (Norway)
- Oman
- (Oman)
- Pakistan
- (Pakistan)
- Palau
- (Palau)
- Palestine
- (Palestine)
- Panama
- (Panama)
- Papua New Guinea
- (Papua New Guinea)
- Paraguay
- (Paraguay)
- Peru
- (Peru)
- Philippines
- (Philippines)
- Pitcairn
- (Pitcairn)
- Poland
- (Poland)
- Polynesia, French
- (Polynesia, French)
- Portugal
- (Portugal)
- Puerto Rico
- (Puerto Rico)
- Qatar
- (Qatar)
- Reunion
- (Reunion)
- Romania
- (Romania)
- Russia
- (Russia)
- Russian Federation
- (Russian Federation)
- Rwanda
- (Rwanda)
- S. Georgia and S. Sandwich Isls.
- (S. Georgia and S. Sandwich Isls.)
- Saint Kitts and Nevis
- (Saint Kitts and Nevis)
- Saint Lucia
- (Saint Lucia)
- Saint Vincent and The Grenadines
- (Saint Vincent and The Grenadines)
- Samoa
- (Samoa)
- San Marino
- (San Marino)
- Sao Tome and Principe
- (Sao Tome and Principe)
- Saudi Arabia
- (Saudi Arabia)
- Scotland
- (Scotland)
- Senegal
- (Senegal)
- Serbia
- (Serbia)
- Seychelles
- (Seychelles)
- Sierra Leone
- (Sierra Leone)
- Singapore
- (Singapore)
- Slovakia (Slovak Republic)
- (Slovakia (Slovak Republic))
- Slovenia
- (Slovenia)
- Solomon Islands
- (Solomon Islands)
- Somalia
- (Somalia)
- South Africa
- (South Africa)
- Southern Territories, French
- (Southern Territories, French)
- Soviet Union (former)
- (Soviet Union (former))
- Spain
- (Spain)
- Sri Lanka
- (Sri Lanka)
- St. Helena, Ascension and Tristan da
- Cunha
- (St. Helena, Ascension and Tristan da
- Cunha)
- St. Pierre and Miquelon
- (St. Pierre and Miquelon)
- Sudan
- (Sudan)
- Sudan, South
- (Sudan, South)
- Suriname
- (Suriname)
- Svalbard and Jan Mayen Islands
- (Svalbard and Jan Mayen Islands)
- Swaziland
- (Swaziland)
- Sweden
- (Sweden)
- Switzerland
- (Switzerland)
- Syria
- (Syria)
- Taiwan
- (Taiwan)
- Tajikistan
- (Tajikistan)
- Tanzania
- (Tanzania)
- Thailand
- (Thailand)
- Togo
- (Togo)
- Tokelau
- (Tokelau)
- Tonga
- (Tonga)
- Trinidad and Tobago
- (Trinidad and Tobago)
- Tunisia
- (Tunisia)
- Turkey
- (Turkey)
- Turkmenistan
- (Turkmenistan)
- Turks and Caicos Islands
- (Turks and Caicos Islands)
- Tuvalu
- (Tuvalu)
- Uganda
- (Uganda)
- Ukraine
- (Ukraine)
- United Arab Emirates
- (United Arab Emirates)
- United Kingdom (Great Britain)
- (United Kingdom (Great Britain))
- United States
- (United States)
- Uruguay
- (Uruguay)
- US Minor Outlying Islands
- (US Minor Outlying Islands)
- Uzbekistan
- (Uzbekistan)
- Vanuatu
- (Vanuatu)
- Vatican City State (Holy See)
- (Vatican City State (Holy See))
- Venezuela
- (Venezuela)
- Viet Nam
- (Viet Nam)
- Virgin Islands (British)
- (Virgin Islands (British))
- Virgin Islands (US)
- (Virgin Islands (US))
- Wales
- (Wales)
- Wallis and Futuna Islands
- (Wallis and Futuna Islands)
- Western Sahara
- (Western Sahara)
- Yemen
- (Yemen)
- Yugoslavia
- (Yugoslavia)
- Zaire
- (Zaire)
- Zambia
- (Zambia)
- Zimbabwe
- (Zimbabwe)
Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death: age at which the individual deceased (when applicable):
- 35y = 35 years
- >43y = still alive at 43y
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment: treatment of patient

 Effect
|

 Exon
|

 DNA change (cDNA)
|

 RNA change
|

 Protein
|

 Allele
|

 Classification method
|

 Clinical classification
|

 DNA change (genomic) (hg19)
|

 DNA change (hg38)
|

 Published as
|

 ISCN
|

 DB-ID
|
 Variant remarks
|

 Reference
|

 ClinVar ID
|

 dbSNP ID
|

 Origin
|

 Segregation
|

 Frequency
|

 Re-site
|

 VIP
|

 Methylation
|

 Template
|

 Technique
|

 Tissue
|
 Remarks
|

 Disease
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Panel size
|

 Owner
|
+/. |
7i_9_ |
c.(1006+1_1007-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148568630_148571844)del |
g.(?_149478764)_(149487099_149490313)del |
del ex8-9 |
- |
IDS_000540 |
del ex8-9 |
PubMed: Zhang 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
patient |
PubMed: Zhang 2011 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
7i_9_ |
c.(1006+1_1007-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148568630_148571844)del |
g.(?_149478764)_(149487099_149490313)del |
del ex8-9 |
- |
IDS_000540 |
del ex8-9 |
PubMed: Zhang 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
patient |
PubMed: Zhang 2011 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
7i_9_ |
c.(1006+1_1007-1)_(*3982_?)del |
r.? |
p.? |
Maternal (inferred) |
- |
pathogenic (recessive) |
g.(?_148560295)_(148568630_148571844)del |
g.(?_149478764)_(149487099_149490313)del |
del ex8-9 |
- |
IDS_000540 |
no detectable enzyme activity |
PubMed: Agrawal 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
MLPA, SEQ |
- |
- |
MPS |
Pat100 |
PubMed: Agrawal 2022 |
patient, family history |
M |
- |
India |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
7i_9_ |
c.(1006+1_1007-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148568630_148571844)del |
g.(?_149478764)_(149487099_149490313)del |
del ex8-9 |
- |
IDS_000540 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH163 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
8i_9_ |
c.(1180+1_1181-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148564750_148568455)del |
g.(?_149478764)_(149483219_149486924)del |
del ex9 |
- |
IDS_000539 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH157 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
8i_9_ |
c.(1180+1_1181-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148564750_148568455)del |
g.(?_149478764)_(149483219_149486924)del |
del ex9 |
- |
IDS_000539 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH158 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
8i_9_ |
c.(1180+1_1181-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148564750_148568455)del |
g.(?_149478764)_(149483219_149486924)del |
del ex9 |
- |
IDS_000539 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH159 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
8i_9_ |
c.(1180+1_1181-1)_(*3982_?)del |
- |
p.? |
Parent #1 |
- |
pathogenic (recessive) |
g.(?_148560295)_(148564750_148568455)del |
g.(?_149478764)_(149483219_149486924)del |
del ex1-4, ex9 |
- |
IDS_000539 |
non-contiguous deletion ex1-4, ex9 |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH164 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
3i_9_ |
c.(418+1_419-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148582569_148584841)del |
g.(?_149478764)_(149501038_149503311)del |
del ex4-9 |
- |
IDS_000541 |
- |
PubMed: Brusius-Facchin 2014 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
SDSX |
H17 |
PubMed: Brusius-Facchin 2014 |
- |
M |
- |
Brazil |
America-S |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
4i_9_ |
c.(507+1_508-1)_(*3982_?)dup |
r.? |
p.? |
Maternal (inferred) |
- |
pathogenic (recessive) |
g.(?_148560295)_(148579839_148582479)dup |
g.(?_149478764)_(149498308_149500948)dup |
dup ex5-9 |
- |
IDS_000678 |
- |
PubMed: Agrawal 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
MLPA, SEQ |
- |
- |
MPS |
Pat96 |
PubMed: Agrawal 2022 |
patient, family history |
M |
- |
India |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
6i_9_ |
c.(879+1_880-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148571972_148577876)del |
g.(?_149478764)_(149490441_149496345)del |
del ex7-9 |
- |
IDS_000677 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH161 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
6i_9_ |
c.(879+1_880-1)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148571972_148577876)del |
g.(?_149478764)_(149490441_149496345)del |
del ex7-9 |
- |
IDS_000677 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH162 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-20915)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_149478764)_(149526043_?)del |
g.(?_148560295)_(148607582_?)del |
- |
- |
IDS_000661 |
del IDS/IDSP1 |
PubMed: Ramirez-Hernandez 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
MLPA |
- |
- |
MPS |
Pat4 |
PubMed: Ramirez-Hernandez 2022 |
- |
M |
- |
Mexico |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-20915)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_149478764)_(149526043_?)del |
g.(?_148560295)_(148607582_?)del |
- |
- |
IDS_000661 |
del IDS/IDSP1 |
PubMed: Ramirez-Hernandez 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
MLPA |
- |
- |
MPS |
Pat5 |
PubMed: Ramirez-Hernandez 2022 |
- |
M |
- |
Mexico |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.(?_-212423)_(*1198445_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_147365832)_(148799090_?)del |
g.(?_148284301)_(149717560_?)del |
del IDS gene |
arr[hg19] Xq28(147365832_148799090)x0 |
IDS_000675 |
- |
PubMed: Vollebregt 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arrayCGH, PCR |
- |
- |
MPS |
Pat15 |
PubMed: Vollebregt 2017 |
- |
M |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
IDS gene deletion extending from DXS1185 to DXS466 |
- |
IDS_000307 |
- |
PubMed: Karsten 1998 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SSCA |
- |
- |
MPS |
- |
PubMed: Karsten 1998 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
gene deleted |
- |
IDS_000307 |
not in 100 control chromosomes |
PubMed: Gort 1998, PubMed: Gort 1998 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SSCA |
- |
- |
MPS |
H14 |
PubMed: Gort 1998, PubMed: Gort 1998 |
patient |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
gene deleted |
- |
IDS_000307 |
not in 100 control chromosomes |
PubMed: Gort 1998, PubMed: Gort 1998 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SSCA |
- |
- |
MPS |
H49 |
PubMed: Gort 1998, PubMed: Gort 1998 |
patient |
M |
- |
Spain |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del gene |
- |
IDS_000307 |
- |
PubMed: Hartog 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
Southern, PCR |
- |
- |
MPS |
U164 |
PubMed: Hartog 1999 |
patient |
M |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del gene |
- |
IDS_000307 |
- |
PubMed: Hartog 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
Southern, PCR |
- |
- |
MPS |
U179 |
PubMed: Hartog 1999 |
patient |
M |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del IDS |
- |
IDS_000307 |
del IDS |
PubMed: Zhang 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
patient |
PubMed: Zhang 2011 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del IDS gene |
- |
IDS_000307 |
- |
PubMed: Amartino 2014 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
Fam1 |
PubMed: Amartino 2014 |
patient |
M |
- |
Argentina |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Fang 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
- |
- |
MPS |
Pat25 |
PubMed: Fang 2022 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
whole gene deletion |
- |
IDS_000307 |
deficient iduronate 2-sulfatase levels |
PubMed: Agrawal 2022 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
MLPA, SEQ |
- |
- |
MPS |
Pat101 |
PubMed: Agrawal 2022 |
patient, no family history |
M |
- |
India |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Maternal (inferred) |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
whole gene deletion |
- |
IDS_000307 |
no detectable enzyme activity |
PubMed: Agrawal 2022 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
MLPA, SEQ |
- |
- |
MPS |
Pat103.1/2 |
PubMed: Agrawal 2022 |
family, 2 affected, family history |
M |
- |
India |
- |
- |
- |
- |
- |
2 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del IDS gene |
- |
IDS_000307 |
deletion undetectable by FISH probe RP11-378O08 |
PubMed: Kosuga 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
Pat65 |
PubMed: Kosuga 2016 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del IDS gene |
- |
IDS_000307 |
deletion undetectable by FISH probe RP11-378O08 |
PubMed: Kosuga 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
Pat67 |
PubMed: Kosuga 2016 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del IDS gene |
- |
IDS_000307 |
1 Mb deletion Xq28incl. IDS, FMR2 |
PubMed: Kosuga 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
Pat66 |
PubMed: Kosuga 2016 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhang 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
Pat62 |
PubMed: Zhang 2019 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhang 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
Pat63 |
PubMed: Zhang 2019 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH166 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH167 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH168 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH169 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH170 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH171 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH172 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del ex1-9 |
- |
IDS_000307 |
- |
PubMed: Zhao 2021 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
Pat29 |
PubMed: Zhao 2021 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del IDS gene |
- |
IDS_000307 |
- |
PubMed: Dvorakova 2017 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
Pat34 |
PubMed: Dvorakova 2017 |
- |
M |
- |
Serbia |
- |
>6y |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
del IDS gene |
- |
IDS_000307 |
- |
PubMed: Dvorakova 2017 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
Pat32 |
PubMed: Dvorakova 2017 |
- |
M |
- |
Serbia |
- |
>6y |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
complete IDS del |
- |
IDS_000307 |
IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam185Pat205 |
PubMed: Semyachkina 2021 |
family, 2 affected (2M) |
M |
- |
Russia |
- |
- |
- |
- |
- |
2 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
complete IDS del |
- |
IDS_000307 |
IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam186Pat206 |
PubMed: Semyachkina 2021 |
relative |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
complete IDS del |
- |
IDS_000307 |
IDS activity plasma 1.3 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam187Pat207 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
complete IDS del |
- |
IDS_000307 |
IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam188Pat208 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
complete IDS del |
- |
IDS_000307 |
IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam189Pat209 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
complete IDS del |
- |
IDS_000307 |
IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam190Pat210 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
complete IDS del |
- |
IDS_000307 |
IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam191Pat211 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-217)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148586884_?)del |
g.(?_149478764)_(149505354_?)del |
complete IDS del |
- |
IDS_000307 |
IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam192Pat212 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_4i |
c.(?_-217)_(507+1_508-1) |
r.0 |
p.0 |
Parent #1 |
- |
pathogenic (recessive) |
g.(148579839_148582479)_(148586884_?)del |
g.(149498308_149500948)_(149505354_?)del |
del ex1-4, ex9 |
- |
IDS_000782 |
non-contiguous deletion ex1-4, ex9 |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH164 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_4i |
c.(?_-217)_(507+1_508-1) |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(148579839_148582479)_(148586884_?)del |
g.(149498308_149500948)_(149505354_?)del |
del ex1-4 |
- |
IDS_000782 |
IDS activity plasma 1.9 (reference 297-705 nmol/4h/ml) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam181Pat199 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_6i |
c.(?_-217)_(879+1_880-1)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(148571972_148577876)_(148586884_?)del |
g.(149490441_149496345)_(149505354_?)del |
del ex1-6 |
- |
IDS_000309 |
- |
PubMed: Hartog 1999 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
Southern, PCR |
- |
- |
MPS |
U64 |
PubMed: Hartog 1999 |
patient |
M |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.(?_-948348)_(*171637_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148392640)_(149535015_?)del |
g.(?_149311109)_(150453485_?)del |
del IDS gene |
arr[hg19] Xq28(148392640_149535015)x0 |
IDS_000676 |
- |
PubMed: Vollebregt 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arrayCGH, PCR |
- |
- |
MPS |
Pat16 |
PubMed: Vollebregt 2017 |
- |
M |
- |
Netherlands |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
8i_9 |
c.1181-1203_*262del |
r.spl |
p.? |
Maternal (confirmed) |
- |
pathogenic (recessive) |
g.148564018_148565955del |
g.149482487_149484424del |
- |
- |
IDS_000679 |
- |
PubMed: Dvorakova 2017 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
Pat27 |
PubMed: Dvorakova 2017 |
- |
M |
- |
Slovakia (Slovak Republic) |
- |
11y6m |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1 |
c.?_(-130890_-133487)delinsN[?] |
r.0? |
p.0? |
Unknown |
- |
pathogenic |
g.(148717557_148720154)_qterdelins[NC_000009.11:g.(50700001_65900000)_qter] |
g.(149635874_149638471)_qterdelins[NC_000009.12:g.(45500001_61500000)_qter] |
- |
46,X,t(X;9)(q28;q12) |
IDS_000835 |
- |
PubMed: Lonardo 2014 |
- |
- |
Germline |
- |
- |
- |
- |
non-random X-inactivation |
DNA |
arrayCGH, FISH, microscope |
- |
- |
MPS |
patient |
PubMed: Lonardo 2014 |
2-generation family, 1 affected, unaffected non carrier parents |
F |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-1669707)_(*4464972_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_144099305)_(150256374_?)del |
g.(?_145017774)_(151174844_?)del |
whole gene deletion |
arr[GRCh38] Xq27.3 q28(145017774_151174844)x0 |
IDS_000652 |
4.7 Mb deletion containing 18 OMIM genes incl. IDS |
PubMed: Agrawal 2022 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
arrayCGH, MLPA, SEQ |
- |
- |
MPS |
Pat102 |
PubMed: Agrawal 2022 |
patient, no family history |
M |
- |
India |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-1096317)_(*8149751_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_140414526)_(149682984_?)del |
g.(?_141326740)_(150595198_?)del |
- |
hg19 Xq27.2q28(140414526_149682984)×0 |
IDS_000668 |
9.27 Mb deletion incl. AFF2, FMR1, IDS, MAMLD1 |
PubMed: Jezela-Stanek 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
arrayCGH, MAPH |
- |
- |
MPS2 |
Pat1 |
PubMed: Jezela-Stanek 2021 |
- |
M |
- |
Poland |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-888828)_(*2284895_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_146279382)_(149475495_?)del |
g.(?_147197851)_(150393965_?)del |
hg18 146087287-149283399del |
- |
IDS_000836 |
3.2Mb deletion including IDS, FMR1, AFF2 |
PubMed: Burruss 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
MPS |
patient |
PubMed: Burruss 2012 |
2-generation family, 1 affected, unaffected non carrier parents |
M |
- |
Honduras |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.-817467_*8573872del |
r.0 |
p.0 |
Maternal (confirmed) |
- |
pathogenic (recessive) |
g.(?_139990405)_(149404134_?)del |
g.(?_140908874)_(150322604_?)del |
- |
hg19 arr Xq27.1Xq28(139,990,405–149,404,134)x0 |
IDS_000348 |
9.4 Mb deletion incl. FMR1, AFF2, IDS |
PubMed: Brusius-Facchin 2012, PubMed: Brusius-Facchin 2014 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arraySNP, PCR |
- |
- |
MPS |
Pat1;H18 |
PubMed: Brusius-Facchin 2012, PubMed: Brusius-Facchin 2014 |
- |
M |
- |
Brazil |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-638727)_(*1171993_?)del |
r.0 |
p.0 |
Maternal (inferred) |
- |
pathogenic |
g.(147300000_147392284)_(149225394_149300000)del |
- |
- |
arrXq28(147,392,284-149,225,394)x0 |
IDS_000170 |
1.83 Mb complete AFF2/IDS/IDSP1 contiguous deletion. FMR1 preserved |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCNV |
- |
- |
MPS2 |
IDS7 |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
- |
M |
no |
Mexico |
Mexican |
- |
- |
- |
- |
1 |
Miguel Angel Alcántara-Ortigoza |
+/. |
_1_9_ |
c.(?_-617769)_(*1474306_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_-147089971)_(149204436_?)del |
g.(?_-147961171)_(150075662_?)del |
- |
hg19 Xq27.3q28(147089971_149204436)×0 |
IDS_000669 |
2.11 Mb deletion incl. AFF2, IDS |
PubMed: Jezela-Stanek 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
MPS |
Pat2 |
PubMed: Jezela-Stanek 2021 |
- |
M |
- |
Poland |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-152178)_(*387863_?)del |
r.0 |
p.0 |
Maternal (confirmed) |
- |
pathogenic |
g.(148000000_148176414)_(148738845_149000000)del |
- |
- |
arr Xq28(148,176,414-148,738,845)x0 mat |
IDS_000188 |
562 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arrayCNV |
- |
- |
MPS2 |
IDS58 |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
carrier mother |
M |
no |
Mexico |
Mexican |
- |
- |
- |
- |
1 |
Miguel Angel Alcántara-Ortigoza |
+/. |
_1_9_ |
c.(?_-145227)_(*1223986_?)del |
r.0 |
p.0 |
Maternal (inferred) |
- |
pathogenic |
g.(147000000_147340291)_(148731894_149000000)del |
- |
- |
arr Xq28(147,340,291-148,731,894)x0 |
IDS_000189 |
1.39 Mb complete AFF2/IDS/IDSP1 contiguous deletion, FMR1 preserved |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
arrayCNV |
- |
- |
MPS2 |
IDS76 |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
- |
M |
no |
Mexico |
Mexican |
- |
- |
- |
- |
1 |
Miguel Angel Alcántara-Ortigoza |
+/. |
_1_9_ |
c.(?_-37581)_(*97194_?)del |
r.0 |
p.0 |
Maternal (confirmed) |
- |
pathogenic (recessive) |
g.(148400000_148467083)_(148624248_148700000)del |
- |
- |
arr Xq28(148,467,083-148,624,248)x0 mat |
IDS_000535 |
157 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arrayCNV |
- |
- |
MPS2 |
IDS28 |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
- |
M |
no |
Mexico |
Mexican |
- |
- |
- |
- |
1 |
Miguel Angel Alcántara-Ortigoza |
+/. |
_1_9_ |
c.-37202_*3837516del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_144726761)_(148623869_?)del |
g.(?_145645230)_(149542339_?)del |
- |
hg19 arr Xq27.3Xq28(144,726,761–148,623,869)x0 |
IDS_000349 |
3.9Mb deletion incl. FMR1, AFF2, IDS |
PubMed: Brusius-Facchin 2012, PubMed: Brusius-Facchin 2014 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
arraySNP, PCR |
- |
- |
MPS |
Pat2;H19 |
PubMed: Brusius-Facchin 2012, PubMed: Brusius-Facchin 2014 |
- |
M |
- |
Brazil |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.(?_-36773)_(1007-157_1007-1)del |
r.0 |
p.0 |
Maternal (confirmed) |
- |
pathogenic (recessive) |
g.(148568630_148568786)_(148623440_148630000)del |
- |
- |
- |
IDS_000505 |
54.7 kb deletion incl. 5'end CXorf40A, LOC1002876 and 5' end IDS |
PubMed: Zanetti 2014 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
arrayCGH |
- |
- |
? |
patient |
PubMed: Zanetti 2014 |
2-generation family, 1 affected, heterozygous carrier mother |
M |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-30086_1007-1357delins[NC_000023.10:g.148606281_148608529inv] |
r.0? |
p.0? |
Parent #1 |
- |
pathogenic (recessive) |
g.148569986_148616753delins148606281_148608529inv |
g.149488455_149535223delins149524738_149526986inv |
hg18 148377891_148424657delins148414166_148416414inv |
- |
IDS_000959 |
36,275bp deletion encompassing IDS locus (ex1-7), 8234bp deletion (partial IDSP1) distal to IDS locus interrupted by 2248bp inverted region (portions of LOC727913 and IDSP1) |
PubMed: Oshima 2011 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
MLPA, PCR, SEQ |
- |
- |
MPS |
Pat2 |
PubMed: Oshima 2011 |
- |
M |
- |
United States |
Pakistan |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-27388_1006+1433delinsG |
r.1007_*3982delinsN[?] |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148570412_148614055delinsC |
g.149488881_149532525delinsC |
- |
- |
IDS_000343 |
fusion transcript detected of exon 2 gene W and exons 8 and 9 IDS gene |
PubMed: Lagerstedt 2000 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA, RNA |
PCR, RT-PCR, SEQ |
- |
- |
MPS |
patient |
PubMed: Lagerstedt 2000 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-22130_1007-1089inv |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148569718_148608797inv |
g.149488187_149527266inv |
IDS/IDS2 inversion |
- |
IDS_000664 |
break point sequences GenBank U77685/U77686 |
PubMed: Lagerstedt 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS2 |
PatI |
PubMed: Lagerstedt 1997 |
- |
M |
- |
Sweden |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-22130_1007-1089inv |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148569718_148608797inv |
g.149488187_149527266inv |
- |
- |
IDS_000664 |
break point sequences GenBank U77689/U77690 |
PubMed: Lagerstedt 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS2 |
PatIII |
PubMed: Lagerstedt 1997 |
- |
M |
- |
Sweden |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-22130_1007-1089inv |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148569718_148608797inv |
g.149488187_149527266inv |
- |
- |
IDS_000664 |
break point sequences GenBank U77691/U77692 |
PubMed: Lagerstedt 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS2 |
PatIV |
PubMed: Lagerstedt 1997 |
- |
M |
- |
Sweden |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-22130_1007-1089inv |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148569718_148608797inv |
g.149488187_149527266inv |
- |
- |
IDS_000664 |
break point sequences GenBank U77693/U77694 |
PubMed: Lagerstedt 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS2 |
PatV |
PubMed: Lagerstedt 1997 |
- |
M |
- |
Sweden |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-22130_1007-1089inv |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148569718_148608797inv |
g.149488187_149527266inv |
- |
- |
IDS_000664 |
break point sequences GenBank U77695/U77696 |
PubMed: Lagerstedt 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS2 |
PatVI |
PubMed: Lagerstedt 1997 |
- |
M |
- |
Sweden |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-22130_1007-1089inv |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148569718_148608797inv |
g.149488187_149527266inv |
- |
- |
IDS_000664 |
break point sequences GenBank U77687/U77688 |
PubMed: Lagerstedt 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS2 |
PatII |
PubMed: Lagerstedt 1997 |
- |
M |
- |
Sweden |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-21912_1007-1315inv |
r.1007_*3982delinsN[?] |
p.? |
Parent #1 |
- |
pathogenic (recessive) |
g.148569944_148608579inv |
g.149488413_149527049inv |
- |
- |
IDS_000095 |
- |
PubMed: Rathmann 1996 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS2 |
- |
PubMed: Rathmann 1996 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.-21912_1007-1315inv |
r.1007_*3982delinsN[?] |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148569944_148608579inv |
g.149488413_149527049inv |
- |
- |
IDS_000095 |
inversion IDS intron 7 / IDSP1 intron 3 (1.3kb downstream) |
PubMed: Bondeson 1995 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA, RNA |
PCR, RT-PCR, SEQ |
- |
- |
MPS |
PatMJ |
PubMed: Bondeson 1995 |
- |
M |
- |
Sweden |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-21644)_(*3982_?)del |
r.0 |
p.0 |
Parent #1 |
- |
pathogenic |
g.(?_148560295)_(148608311_?)del |
g.(?_149478764)_(149526781_?)del |
- |
- |
IDS_000662 |
complete gene deletion incl. pseudogene |
PubMed: Vafiadaki 1998 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS2 |
NH |
PubMed: Vafaidaki 1998 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_7i |
c.-21059_1007-260del |
r.0? |
p.0? |
Unknown |
- |
pathogenic (recessive) |
g.148568889_148607726del |
g.149487358_149526196del |
NT_019686 1307880-1346697del |
- |
IDS_000344 |
- |
PubMed: Chou 2005 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
patient |
PubMed: Chou 2005 |
- |
M |
- |
Taiwan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_9_ |
c.(?_-20915)_(*3982_?)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(?_148560295)_(148607582_?)del |
g.(?_149478764)_(149526043_?)del |
del IDS/IDSP1 |
- |
IDS_000661 |
del IDS/IDSP1 |
PubMed: Zhang 2011 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
patient |
PubMed: Zhang 2011 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
-?/. |
_1 |
c.-816G>A |
r.(?) |
- |
Maternal (confirmed) |
- |
likely benign |
g.148587483C>T |
g.149505953= |
AF011889.1:g.272678A>G |
- |
IDS_000533 |
variant detected in 10/100 control chromosomes |
PubMed: Brusius-Facchin 2013 |
- |
rs611188 |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS2 |
H3/H4 |
PubMed: Brusius-Facchin 2013 |
- |
M |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1 |
c.-311_-135del |
r.0 |
p.0 |
Maternal (confirmed) |
- |
pathogenic (recessive) |
g.148586802_148586978del |
g.149505272_149505448del |
- |
- |
IDS_000353 |
no mRNA detectable |
PubMed: Timms 1998 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA, RNA |
PCR, RT-PCR, SEQ |
- |
- |
MPS |
patient |
PubMed: Timms 1998 |
family, 1 affected, non-affected carrier mother/aunt/maternal grandmother |
M |
- |
United States |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1 |
c.-310_-133del |
r.(=|red) |
p.(=) |
Unknown |
- |
pathogenic (recessive) |
g.148586802_148586979del |
g.149505272_149505449del |
g.271996_272174del |
- |
IDS_000000 |
- |
PubMed: Josahkian 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
- |
PubMed: Josahkian 2021 |
patient |
- |
- |
Brazil |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1 |
c.-310_-133del |
r.(=|red) |
p.(=) |
Unknown |
- |
pathogenic (recessive) |
g.148586802_148586979del |
g.149505272_149505449del |
g.271996_272174del |
- |
IDS_000000 |
- |
PubMed: Josahkian 2021 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
- |
PubMed: Josahkian 2021 |
patient |
- |
- |
Brazil |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1 |
c.-307_-131del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148586799_148586975del |
g.149505269_149505445del |
- |
- |
IDS_000532 |
- |
PubMed: Brusius-Facchin 2013 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS2 |
H1 |
PubMed: Brusius-Facchin 2013 |
2-generation family, 1 affected, unaffected non-carrier mother |
M |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1 |
c.-307_-131del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.148586799_148586975del |
g.149505269_149505445del |
- |
- |
IDS_000532 |
- |
PubMed: Brusius-Facchin 2013 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS2 |
H2 |
PubMed: Brusius-Facchin 2013 |
2-generation family, 1 affected, unaffected non-carrier mother |
M |
- |
Italy |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_4_ |
c.(?_-265)_(507+11_?)del |
r.0? |
p.0? |
Unknown |
- |
pathogenic (recessive) |
g.(?_148582469)_(148586932_?)del |
g.(?_149500938)_(149505402_?)del |
del ex1-4 (1–103_184del) |
- |
IDS_000834 |
- |
PubMed: Jurecka 2012 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
MLPA |
- |
- |
MPS |
Pat2 |
PubMed: Jurecka 2012 |
2-generation family, 1 affected, unaffected non carrier mother/sister |
F |
- |
Latvia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_1i |
c.(?_-217)_(103+1_104-1)del |
r.0? |
p.0? |
Maternal (inferred) |
- |
pathogenic |
g.(148585824_148586564)_(148586884_?)del |
g.(149504294_149505034)_(149505408_?)del |
exon 1 deletion |
- |
IDS_000169 |
exon 1 deletion, breakpoint not sequenced |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS2 |
IDS78 |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
Obligate carrier mother (positive familial history for Hunter syndrome) not available for analysis |
M |
no |
Mexico |
Mexican |
- |
- |
- |
- |
1 |
Miguel Angel Alcántara-Ortigoza |
+/. |
_1_1i |
c.(?_-217)_(103+1_104-1)del |
r.0? |
p.0? |
Parent #1 |
- |
pathogenic (recessive) |
g.(148585824_148586564)_(148586884_?)del |
g.(149504294_149505034)_(149505408_?)del |
del ex1 dup ex4 |
- |
IDS_000169 |
deficient iduronate 2-sulfatase levels |
PubMed: Agrawal 2022 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
MLPA, SEQ |
- |
- |
MPS |
Pat98 |
PubMed: Agrawal 2022 |
patient, no family history |
M |
- |
India |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_3i |
c.(?_-217)_(418+1_419-1)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(148582569_148584841)_(148586884_?)del |
g.(149501038_149503311)_(149505354_?)del |
del ex1-3 |
- |
IDS_000801 |
- |
PubMed: Zhang 2019 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
Pat59 |
PubMed: Zhang 2019 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_3i |
c.(?_-217)_(418+1_419-1)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(148582569_148584841)_(148586884_?)del |
g.(149501038_149503311)_(149505354_?)del |
del ex1-3 |
- |
IDS_000801 |
IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam179Pat197 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_3i |
c.(?_-217)_(418+1_419-1)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(148582569_148584841)_(148586884_?)del |
g.(149501038_149503311)_(149505354_?)del |
del ex1-3 |
- |
IDS_000801 |
IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h) |
PubMed: Semyachkina 2021 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
PCR |
- |
- |
MPS |
Fam180Pat198 |
PubMed: Semyachkina 2021 |
patient |
M |
- |
Russia |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_6i |
c.(?_-217)_(879+1_880-1)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(148571972_148577876)_(148586884_?)del |
g.(149490441_149496345)_(149505354_?)del |
del ex1-6 |
- |
IDS_000309 |
- |
PubMed: Sohn 2012 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
MPS |
KH55 |
PubMed: Sohn 2012 |
- |
M |
- |
Korea |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_6i |
c.(?_-217)_(879+1_880-1)del |
r.? |
p.? |
Unknown |
- |
pathogenic (recessive) |
g.(148571972_148577876)_(148586884_?)del |
g.(149490441_149496345)_(149505354_?)del |
del ex1-6 |
- |
IDS_000309 |
- |
PubMed: Agrawal 2022 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
MLPA, SEQ |
- |
- |
MPS |
Pat97 |
PubMed: Agrawal 2022 |
patient, no family history |
M |
- |
India |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
_1_6i |
c.(?_-217)_(879+1_880-1)del |
r.0 |
p.0 |
Unknown |
- |
pathogenic (recessive) |
g.(148571972_148577876)_(148586884_?)del |
g.(149490441_149496345)_(149505354_?)del |
del ex1-6 |
- |
IDS_000309 |
- |
PubMed: Zhong 2023 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
PCR, SEQ |
- |
- |
MPS |
CH165 |
PubMed: Zhong 2023 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1_7i |
c.(?_-217)_(1006+1_1007-1)inv |
r.? |
p.? |
Parent #1 |
- |
pathogenic |
g.(148568630_148571844)_(148586884_?)inv |
g.(149486999_149490313)_(149505354_?)inv |
- |
- |
IDS_000082 |
inversion IDS-intron7 / IDS2 exon3; present in 13% patients |
PubMed: Bondeson 1995 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
Southern, SEQ |
- |
- |
MPS2 |
- |
- |
- |
M |
- |
Sweden |
- |
- |
- |
- |
- |
7 |
Johan den Dunnen |
+/. |
1_7i |
c.(?_-217)_(1006+1_1007-1)inv |
r.? |
p.? |
Parent #1 |
- |
pathogenic |
g.(148568630_148571844)_(148586884_?)inv |
g.(149486999_149490313)_(149505354_?)inv |
- |
- |
IDS_000082 |
- |
PubMed: Isogai 1998 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
Southern |
- |
- |
MPS2 |
- |
PubMed: Isogai 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1_7i |
c.(?_-217)_(1006+1_1007-1)inv |
r.? |
p.? |
Parent #1 |
- |
pathogenic |
g.(148568630_148571844)_(148586884_?)inv |
g.(149486999_149490313)_(149505354_?)inv |
- |
- |
IDS_000082 |
- |
PubMed: Isogai 1998 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
Southern |
- |
- |
MPS2 |
- |
PubMed: Isogai 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1_7i |
c.(?_-217)_(1006+1_1007-1)inv |
r.? |
p.? |
Parent #1 |
- |
pathogenic |
g.(148568630_148571844)_(148586884_?)inv |
g.(149486999_149490313)_(149505354_?)inv |
- |
- |
IDS_000082 |
- |
PubMed: Isogai 1998 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
Southern |
- |
- |
MPS2 |
- |
PubMed: Isogai 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1_7i |
c.(?_-217)_(1006+1_1007-1)inv |
r.? |
p.? |
Parent #1 |
- |
pathogenic |
g.(148568630_148571844)_(148586884_?)inv |
g.(149486999_149490313)_(149505354_?)inv |
- |
- |
IDS_000082 |
- |
PubMed: Isogai 1998 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
Southern |
- |
- |
MPS2 |
- |
PubMed: Isogai 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1_7i |
c.(?_-217)_(1006+1_1007-1)inv |
r.? |
p.? |
Parent #1 |
- |
pathogenic |
g.(148568630_148571844)_(148586884_?)inv |
g.(149486999_149490313)_(149505354_?)inv |
- |
- |
IDS_000082 |
- |
PubMed: Isogai 1998 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
Southern |
- |
- |
MPS2 |
- |
PubMed: Isogai 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
1_7i |
c.(?_-217)_(1006+1_1007-1)inv |
r.? |
p.? |
Parent #1 |
- |
pathogenic |
g.(148568630_148571844)_(148586884_?)inv |
g.(149486999_149490313)_(149505354_?)inv |
- |
- |
IDS_000082 |
- |
PubMed: Isogai 1998 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
Southern |
- |
- |
MPS2 |
- |
PubMed: Isogai 1998 |
- |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |