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
|
-?/. |
- |
c.-75A>G |
r.(?) |
p.(=) |
Unknown |
- |
likely benign |
g.15353635T>C |
g.15335513T>C |
PIGA(NM_002641.3):c.-75A>G (p.(=)) |
- |
PIGA_000079 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.-68T>C |
r.(?) |
p.(=) |
Unknown |
- |
VUS |
g.15353628A>G |
- |
PIGA(NM_002641.3):c.-68T>C (p.?) |
- |
PIGA_000096 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.-63G>A |
r.(?) |
p.(=) |
Unknown |
- |
VUS |
g.15353623C>T |
- |
PIGA(NM_002641.4):c.-63G>A |
- |
PIGA_000088 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
1i |
c.-63+1G>A |
r.-63_-62ins[A;-63+2_-63+146] |
p.? |
Maternal (confirmed) |
ACMG |
VUS |
g.15353622C>T |
g.15335500C>T |
- |
- |
PIGA_000097 |
- |
- |
- |
- |
Germline |
yes |
- |
- |
- |
- |
RNA |
SEQ-NG-RNA |
whole blood |
- |
ID |
R087 |
- |
- |
F |
no |
China |
Chinese |
- |
- |
- |
- |
1 |
Xiaomei Luo |
?/. |
- |
c.-63+140C>G |
r.(=) |
p.(=) |
Maternal (inferred) |
- |
VUS |
g.15353483G>C |
g.15335361G>C |
- |
- |
PIGA_000015 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CHTE |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
1 |
Yu Sun |
?/. |
- |
c.-63+140C>G |
r.(=) |
p.(=) |
Maternal (inferred) |
- |
VUS |
g.15353483G>C |
g.15335361G>C |
- |
- |
PIGA_000015 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CHTE |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
1 |
Yu Sun |
-?/. |
- |
c.-62-7T>C |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.15350121A>G |
- |
PIGA(NM_002641.4):c.-62-7T>C |
- |
PIGA_000098 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
./. |
2 |
c.16G>T |
r.(?) |
p.(Gly6*) |
Unknown |
- |
pathogenic |
g.15350037C>A |
g.15331915C>A |
- |
- |
PIGA_000032 |
Variant found in 14% of clones. This mutation was found in patient's bone marrow before the treatment. |
PubMed: Nafa et al. 1998 |
- |
- |
Somatic |
yes |
- |
- |
- |
- |
DNA |
SSCA |
- |
- |
PNH1 |
- |
PubMed: Nafa et al 1998 |
Patient with paroxysmal nocturnal hemoglobinuria (OMIM: 300818).Three somatic mutations were found in this patient before bone marrow transplantation, and one novel somatic mutation was found after treatment. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
-/. |
- |
c.55C>T |
r.(?) |
p.(Arg19Trp) |
Unknown |
- |
benign |
g.15349998G>A |
g.15331876G>A |
PIGA(NM_002641.3):c.55C>T (p.R19W) |
- |
PIGA_000046 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-/. |
- |
c.55C>T |
r.(?) |
p.(Arg19Trp) |
Parent #1 |
- |
benign |
g.15349998G>A |
g.15331876G>A |
- |
- |
PIGA_000046 |
66 heterozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
- |
Germline |
- |
66/2795 individuals |
- |
- |
- |
DNA |
arraySNP |
- |
Infinium Global Screening Array v1.0 |
? |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
66 |
Mohammed Faruq |
-/. |
- |
c.55C>T |
r.(?) |
p.(Arg19Trp) |
Unknown |
- |
benign |
g.15349998G>A |
g.15331876G>A |
- |
- |
PIGA_000046 |
44 homozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
- |
Germline |
- |
44/2795 individuals |
- |
- |
- |
DNA |
arraySNP |
- |
Infinium Global Screening Array v1.0 |
? |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
44 |
Mohammed Faruq |
-/. |
- |
c.55C>T |
r.(?) |
p.(Arg19Trp) |
Unknown |
- |
benign |
g.15349998G>A |
- |
PIGA(NM_002641.3):c.55C>T (p.R19W) |
- |
PIGA_000046 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.56G>A |
r.(?) |
p.(Arg19Gln) |
Unknown |
- |
VUS |
g.15349997C>T |
g.15331875C>T |
PIGA(NM_002641.3):c.56G>A (p.R19Q) |
- |
PIGA_000077 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.61A>G |
r.(?) |
p.(Ser21Gly) |
Unknown |
- |
VUS |
g.15349992T>C |
g.15331870T>C |
PIGA(NM_002641.3):c.61A>G (p.S21G, p.(Ser21Gly)) |
- |
PIGA_000045 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.61A>G |
r.(?) |
p.(Ser21Gly) |
Unknown |
- |
VUS |
g.15349992T>C |
g.15331870T>C |
PIGA(NM_002641.3):c.61A>G (p.S21G, p.(Ser21Gly)) |
- |
PIGA_000045 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.64C>T |
r.(?) |
p.(Pro22Ser) |
Unknown |
- |
likely benign |
g.15349989G>A |
g.15331867G>A |
PIGA(NM_002641.3):c.64C>T (p.P22S) |
- |
PIGA_000085 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.68dupG |
r.(?) |
p.(Ser24LysfsTer6) |
Maternal (confirmed) |
- |
pathogenic (recessive) |
g.15349986dup |
g.15331864dup |
ref?:c.68dupG |
- |
PIGA_000099 |
- |
PubMed: Soden 2014 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
- |
- |
? |
CMH301 |
PubMed: Soden 2014 |
family, 1 affected |
- |
- |
United States |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+/. |
- |
c.76dup |
r.(?) |
p.(Tyr26Leufs*4) |
Maternal (confirmed) |
- |
pathogenic |
g.15349979dup |
g.15331857dup |
- |
- |
PIGA_000002 |
This mutation was not found in the 1000 Genomes Project, dbSNP, or Exome Variant Server database. The patients had reduced CD59 surface expression.This early frameshift mutation in PIGA produces a truncated hypomorph. Complementation assays confirmed that this shorter PIGA cDNA was able to partially rescue the surface expression of CD59 in a PIGA-null cell line. |
PubMed: Belet et al 2014 |
- |
rs587777397 |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
MCAHS2;GPIBD4 |
- |
PubMed: Claes et al 1997, PubMed: Belet et al 2014 |
Four-generation family with three female carriers and five affected males with multiple congenital anomalies-hypotonia-seizures syndrome 2. |
- |
- |
Belgium |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
./. |
- |
c.76dup |
r.(?) |
p.(Tyr26Leufs*4) |
Maternal (confirmed) |
- |
likely pathogenic |
g.15349979dup |
g.15331857dup |
76dupT |
- |
PIGA_000002 |
- |
PubMed: Claes 1997 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA, RNA |
RT-PCR, SEQ |
- |
- |
MCAHS2;GPIBD4 |
09307258-Pat |
PubMed: Claes 1997 |
- |
M |
no |
Belgium |
white |
- |
- |
- |
- |
1 |
Guy Froyen |
+?/. |
2 |
c.98A>G |
r.(?) |
p.(His33Arg) |
Maternal (confirmed) |
- |
likely pathogenic |
g.15349955T>C |
g.15331833T>C |
- |
- |
PIGA_000040 |
- |
- |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
blood |
- |
ID |
P7 |
- |
- |
M |
no |
China |
- |
>06y |
- |
- |
- |
1 |
Wenjuan Qiu |
+/. |
- |
c.110T>C |
r.(?) |
p.(Met37Thr) |
Unknown |
- |
pathogenic |
g.15349943A>G |
g.15331821A>G |
- |
- |
PIGA_000057 |
Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function. |
- |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
Peripheral blood |
WES |
EEOC |
Elder twin |
PubMed: Xie et al., 2018 |
Monozygotic twins |
M |
no |
China |
Chinese |
>00y14m |
- |
- |
Antiepileptic medications, ketogenic diet therapy |
1 |
Philippe Campeau |
+/. |
2 |
c.110T>C |
r.(?) |
p.(Met37Thr) |
Unknown |
- |
pathogenic |
g.15349943A>G |
g.15331821A>G |
- |
- |
PIGA_000057 |
Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function. |
- |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
- |
WES |
EEOC |
YoungerTwin |
PubMed: Xie et al., 2018 |
Monozygotic twins |
M |
no |
China |
Chinese |
>00y14m |
- |
- |
Antiepileptic medications, ketogenic diet therapy |
1 |
Philippe Campeau |
?/. |
- |
c.145G>A |
r.(?) |
p.(Val49Met) |
Unknown |
- |
VUS |
g.15349908C>T |
g.15331786C>T |
- |
- |
PIGA_000049 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
- |
c.145G>A |
r.(?) |
p.(Val49Met) |
Unknown |
- |
likely pathogenic |
g.15349908C>T |
g.15331786C>T |
- |
- |
PIGA_000049 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
- |
c.154del |
r.(?) |
p.(His52Thrfs*9) |
Unknown |
- |
likely pathogenic |
g.15349900del |
- |
PIGA(NM_002641.3):c.154del (p.(His52Thrfs*9)) |
- |
PIGA_000089 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
- |
c.182T>C |
r.(?) |
p.(Ile61Thr) |
Unknown |
- |
likely pathogenic |
g.15349871A>G |
g.15331749A>G |
- |
- |
PIGA_000076 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.188G>C |
r.(?) |
p.(Arg63Thr) |
Maternal (confirmed) |
ACMG |
VUS (!) |
g.15349865C>G |
g.15331743C>G |
- |
- |
PIGA_000093 |
ACMG: PM1, PS4_SUP, PM2_SUP, PP1 |
- |
VCV002844498.1 |
- |
Germline |
? |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
Blood |
- |
MCAHS2;GPIBD4 |
288290 |
- |
- |
M |
no |
Germany |
- |
- |
- |
- |
- |
1 |
Andreas Laner |
./. |
2 |
c.211A>G |
r.(?) |
p.(Thr71Ala) |
Unknown |
- |
pathogenic |
g.15349842T>C |
g.15331720T>C |
- |
- |
PIGA_000030 |
Mutation found in 13 over 36 clones. This mutation was present in the patient's bone marrow before the treatment. |
PubMed: Nafa et al 1998 |
- |
- |
Somatic |
yes |
- |
- |
- |
- |
DNA |
SSCA |
- |
- |
PNH1 |
- |
PubMed: Nafa et al 1998 |
Patient with paroxysmal nocturnal hemoglobinuria (OMIM: 300818).Three somatic mutations were found in this patient before bone marrow transplantation, and one novel somatic mutation was found after treatment. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+?/+? |
- |
c.229C>G |
r.(?) |
p.(Arg77Gly) |
Unknown |
- |
likely pathogenic |
g.15349824G>C |
g.15331702G>C |
- |
- |
PIGA_000061 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.230G>A |
r.(?) |
p.(Arg77Gln) |
Unknown |
- |
VUS |
g.15349823C>T |
g.15331701C>T |
PIGA(NM_002641.4):c.230G>A (p.(Arg77Gln), p.R77Q) |
- |
PIGA_000075 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.230G>A |
r.(?) |
p.(Arg77Gln) |
Unknown |
- |
pathogenic |
g.15349823C>T |
- |
PIGA(NM_002641.4):c.230G>A (p.(Arg77Gln), p.R77Q) |
- |
PIGA_000075 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
./. |
2 |
c.230G>T |
r.(?) |
p.(Arg77Leu) |
Unknown |
- |
pathogenic |
g.15349823C>A |
g.15331701C>A |
- |
- |
PIGA_000035 |
Variant in a highly conserved residue. It was absent in in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that the mutant protein could partially restore GPI-anchored protein expression in PIGA-null cells. |
PubMed: Kato et al 2014 |
- |
rs587777398 |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
MCAHS2;GPIBD4 |
- |
PubMed: Kato et al 2014 |
Two brothers with early infantile epileptic encephalopathy. |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+?/+? |
- |
c.236G>T |
r.(?) |
p.(Gly79Val) |
Unknown |
- |
likely pathogenic |
g.15349817C>A |
g.15331695C>A |
- |
- |
PIGA_000062 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
- |
c.242G>A |
r.(?) |
p.(Arg81His) |
Unknown |
- |
likely pathogenic |
g.15349811C>T |
g.15331689C>T |
- |
- |
PIGA_000063 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.248T>C |
r.(?) |
p.(Leu83Pro) |
Unknown |
- |
VUS |
g.15349805A>G |
g.15331683A>G |
PIGA(NM_002641.3):c.248T>C (p.L83P) |
- |
PIGA_000074 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
./. |
2 |
c.251C>T |
r.(?) |
p.(Thr84Ile) |
Unknown |
- |
pathogenic |
g.15349802G>A |
g.15331680G>A |
- |
- |
PIGA_000031 |
Mutation found in 5 over 36 clones. The clones carrying this mutation also carried the Thr71Ala mutation. Those mutations were found in the patient's BM before the treatment. |
PubMed: Nafa et al. 1998 |
- |
- |
Somatic |
yes |
- |
- |
- |
- |
DNA |
SSCA |
- |
- |
PNH1 |
- |
PubMed: Nafa et al 1998 |
Patient with paroxysmal nocturnal hemoglobinuria (OMIM: 300818).Three somatic mutations were found in this patient before bone marrow transplantation, and one novel somatic mutation was found after treatment. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
- |
c.278C>T |
r.(?) |
p.(Pro93Leu) |
Unknown |
- |
pathogenic |
g.15349775G>A |
g.15331653G>A |
- |
- |
PIGA_000039 |
This variant was not found in the dbSNP or Exome Variant Server databases, or in 100 in-house control exomes. No functional studies were performed. |
PubMed: van der Crabben et al 2014 |
- |
rs587777400 |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
MCAHS2;GPIBD4 |
- |
PubMed: van der Crabben et al 2014 |
Three generation family with one male affected and two female carriers. |
M |
- |
- |
white |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
- |
c.278C>T |
r.(?) |
p.(Pro93Leu) |
Unknown |
- |
pathogenic |
g.15349775G>A |
g.15331653G>A |
PIGA(NM_002641.3):c.278C>T (p.P93L) |
- |
PIGA_000039 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.290T>A |
r.(?) |
p.(Met97Lys) |
Maternal (confirmed) |
- |
pathogenic |
g.15349763A>T |
g.15331641A>T |
c.290T>A p.(Met97Lys) (hem) [NM_002641.3] |
- |
PIGA_000060 |
Hemizygous mutation |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
WGS Illumina |
MCAHS2;GPIBD4 |
28771251-Pat27 |
PubMed: Lionel et al., 2018 |
Variant found in a patient with a clinical phenotype suggestive of an underlying genetic disorder using WGS |
M |
? |
Canada |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
- |
c.293A>C |
r.(?) |
p.(Tyr98Ser) |
Unknown |
- |
pathogenic |
g.15349760T>G |
g.15331638T>G |
PIGA (NM_002641.3) c.293A > C p. (Tyr98Ser) |
- |
PIGA_000058 |
Missense variant. This variant affects a highly conserved amino acid in a known functional domain of PIGA and causes a physiochemical change which is predicted in silico to be pathogenic (Polyphen-Probably damaging 0.976; SIFT-deleterious 0.01). |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
Trio-based exam sequencing |
EIEE |
Decipher ID 271747 |
PubMed: Low et al., 2018 |
17 year old man (only child) with infantile epilepsy and developmental delay who has a maternally inherited missense mutation in PIGA |
M |
no |
- |
- |
>17y |
- |
- |
Anti-epileptic drugs, ketogenic diet, vagal nerve stimulator (VNS) |
1 |
Philippe Campeau |
?/. |
- |
c.313A>C |
r.(?) |
p.(Thr105Pro) |
Unknown |
- |
VUS |
g.15349740T>G |
g.15331618T>G |
PIGA(NM_002641.4):c.313A>C (p.T105P) |
- |
PIGA_000073 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.313A>C |
r.(?) |
p.(Thr105Pro) |
Unknown |
- |
VUS |
g.15349740T>G |
- |
PIGA(NM_002641.4):c.313A>C (p.T105P) |
- |
PIGA_000073 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
2 |
c.355C>T |
r.(?) |
p.(Arg119Trp) |
Unknown |
- |
pathogenic |
g.15349698G>A |
g.15331576G>A |
- |
- |
PIGA_000037 |
Variant at a highly conserved residue. It was absent in was not found in the Exome Variant Server database or in 573 control exomes. |
PubMed: Kato et al 2014 |
- |
rs587777396 |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
MCAHS2;GPIBD4 |
- |
PubMed: Kato et al 2014 |
15-month-old boy with MCAHS2 |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
- |
c.356G>A |
r.(?) |
p.(Arg119Gln) |
Unknown |
- |
pathogenic |
g.15349697C>T |
g.15331575C>T |
- |
- |
PIGA_000056 |
Patient's mother and aunt are carriers of the variant |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG-I |
Peripheral blood |
WES |
IE |
ZY07 |
PubMed: Lin et al., 2018 |
First family with PIGA-associated epileptic encephalopathy in Taiwan. Proband is third child of a pair of nonconsanguineous healthy parents. |
M |
no |
Taiwan |
Taiwanese |
>00y03m |
- |
- |
Anti-epileptic drugs, levodopa |
1 |
Philippe Campeau |
+/. |
- |
c.356G>A |
r.(?) |
p.(Arg119Gln) |
Maternal (inferred) |
- |
pathogenic |
g.15349697C>T |
g.15331575C>T |
- |
- |
PIGA_000056 |
- |
PubMed: Hong 2020 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
- |
WES |
? |
Pat11 |
PubMed: Hong 2020 |
- |
M |
- |
Taiwan |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
-?/. |
- |
c.384T>C |
r.(?) |
p.(His128=) |
Unknown |
- |
likely benign |
g.15349669A>G |
- |
PIGA(NM_002641.3):c.384T>C (p.H128=) |
- |
PIGA_000087 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
- |
c.404C>T |
r.(?) |
p.(Ala135Val) |
Unknown |
- |
likely pathogenic |
g.15349649G>A |
g.15331527G>A |
- |
- |
PIGA_000064 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.418T>C |
r.(?) |
p.(Phe140Leu) |
Unknown |
- |
likely benign |
g.15349635A>G |
- |
PIGA(NM_002641.4):c.418T>C (p.(Phe140Leu)) |
- |
PIGA_000095 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
- |
c.424G>A |
r.(?) |
p.(Ala142Thr) |
Both (homozygous) |
- |
likely pathogenic |
g.15349629C>T |
g.15331507C>T |
- |
- |
PIGA_000053 |
- |
- |
- |
- |
Unknown |
- |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
? |
- |
- |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
1 |
IMGAG |
+?/. |
- |
c.427A>G |
r.(?) |
p.(Lys143Glu) |
Maternal (confirmed) |
- |
likely pathogenic |
g.15349626T>C |
g.15331504T>C |
- |
- |
PIGA_000050 |
- |
PubMed: Kim et al. 2016 |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
WES |
EEOC |
- |
PubMed: Kim 2016 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
?/. |
- |
c.458A>T |
r.(?) |
p.(Asp153Val) |
Maternal (confirmed) |
ACMG |
VUS |
g.15349595T>A |
g.15331473T>A |
- |
- |
PIGA_000094 |
ACMG: PM1, PP3_MOD, PM2_SUP |
- |
- |
- |
Germline |
? |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
Blood |
- |
NEDEPH |
286520 |
- |
- |
M |
no |
Germany |
- |
- |
- |
- |
- |
1 |
Andreas Laner |
+?/+? |
- |
c.481G>A |
r.(?) |
p.(Asp161Asn) |
Unknown |
- |
likely pathogenic |
g.15349572C>T |
g.15331450C>T |
- |
- |
PIGA_000065 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.492G>A |
r.(?) |
p.(Ser164=) |
Unknown |
- |
likely benign |
g.15349561C>T |
g.15331439C>T |
PIGA(NM_002641.3):c.492G>A (p.S164=) |
- |
PIGA_000072 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
- |
c.502A>C |
r.(?) |
p.(Asn168His) |
Unknown |
ACMG |
likely pathogenic (dominant) |
g.15349551T>G |
g.15331429T>G |
- |
- |
PIGA_000091 |
ACMG PS2, PM2, PP3 |
PubMed: Ostrander 2018 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
- |
WGS |
EIEE |
Pat4 |
PubMed: Ostrander 2018 |
2-generation family, 1 affected, unaffected non-carrier parents |
M |
- |
United States |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+?/. |
- |
c.535A>T |
r.(?) |
p.(Asn179Tyr) |
Maternal (confirmed) |
- |
likely pathogenic |
g.15349518T>A |
g.15331396T>A |
- |
- |
PIGA_000052 |
- |
PubMed: Joshi et al. 2016 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
WES |
EEOC |
IIHG-112-1 |
PubMed: Joshi 2016 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
2 |
Philippe Campeau |
+?/. |
- |
c.535A>T |
r.(?) |
p.(Asn179Tyr) |
Maternal (confirmed) |
- |
likely pathogenic |
g.15349518T>A |
g.15331396T>A |
- |
- |
PIGA_000052 |
- |
PubMed: Joshi et al. 2016 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ |
- |
- |
EEOC |
IIHG-112-5 |
PubMed: Joshi 2016 |
- |
M |
no |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+?/+? |
- |
c.565A>G |
r.(?) |
p.(Lys189Glu) |
Unknown |
- |
likely pathogenic |
g.15349488T>C |
g.15331366T>C |
- |
- |
PIGA_000066 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.586G>A |
r.(?) |
p.(Ala196Thr) |
Unknown |
- |
VUS |
g.15349467C>T |
- |
PIGA(NM_002641.4):c.586G>A (p.A196T) |
- |
PIGA_000044 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.613G>A |
r.(?) |
p.(Val205Ile) |
Parent #1 |
- |
VUS |
g.15349440C>T |
g.15331318C>T |
- |
- |
PIGA_000054 |
found once, nonrecurrent change |
PubMed: Tarpey 2009 |
- |
- |
Germline |
- |
1/208 cases |
- |
- |
- |
DNA |
SEQ |
- |
- |
MRX;IDX |
19377476-Pat? |
PubMed: Tarpey 2009 |
- |
M |
- |
- |
- |
- |
- |
for details contact Lucy Raymond (flr24 @ cam.ac.uk) |
- |
1 |
Lucy Raymond |
-?/. |
- |
c.613G>A |
r.(?) |
p.(Val205Ile) |
Unknown |
- |
likely benign |
g.15349440C>T |
- |
- |
- |
PIGA_000054 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
2 |
c.616A>T |
r.(?) |
p.(Ile206Phe) |
Unknown |
- |
pathogenic |
g.15349437T>A |
g.15331315T>A |
- |
- |
PIGA_000036 |
Variant in a highly conserved residue. It was absent in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that mutant protein partially restored GPI-anchored proteins expression in PIGA-null cells. |
PubMed: Kato et al 2014 |
- |
rs201119959 |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
MCAHS2;GPIBD4 |
- |
PubMed: Kato et al 2014 |
Boy with MCAHS2. |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
?/. |
- |
c.665G>A |
r.(?) |
p.(Arg222Lys) |
Unknown |
- |
VUS |
g.15349388C>T |
g.15331266C>T |
PIGA(NM_002641.3):c.665G>A (p.R222K, p.(Arg222Lys)) |
- |
PIGA_000043 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.665G>A |
r.(?) |
p.(Arg222Lys) |
Unknown |
- |
VUS |
g.15349388C>T |
g.15331266C>T |
PIGA(NM_002641.3):c.665G>A (p.R222K, p.(Arg222Lys)) |
- |
PIGA_000043 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
?/. |
- |
c.715+168C>A |
r.(=) |
p.(=) |
Maternal (inferred) |
- |
VUS |
g.15349170G>T |
g.15331048G>T |
- |
- |
PIGA_000014 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CHTE |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
1 |
Yu Sun |
-?/. |
- |
c.716-10A>G |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.15344178T>C |
g.15326056T>C |
PIGA(NM_002641.3):c.716-10A>G |
- |
PIGA_000084 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.823C>T |
r.(?) |
p.(Arg275Trp) |
Unknown |
ACMG |
pathogenic |
g.15344061G>A |
g.15325939G>A |
R41W |
- |
PIGA_000090 |
- |
PubMed: Zhou 2018 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
- |
target gene panel |
epilepsy |
Pat193 |
PubMed: Zhou 2018 |
- |
M |
- |
China |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
?/. |
- |
c.849-129_849-128dup |
r.(=) |
p.(=) |
Maternal (inferred) |
- |
VUS |
g.15343402_15343403dup |
g.15325280_15325281dup |
- |
- |
PIGA_000012 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CHTE |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
1 |
Yu Sun |
?/. |
- |
c.849-129_849-128dup |
r.(=) |
p.(=) |
Maternal (inferred) |
- |
VUS |
g.15343402_15343403dup |
g.15325280_15325281dup |
- |
- |
PIGA_000017 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CHTE |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
1 |
Yu Sun |
?/. |
- |
c.849-129_849-128dup |
r.(=) |
p.(=) |
Maternal (inferred) |
- |
VUS |
g.15343402_15343403dup |
g.15325280_15325281dup |
- |
- |
PIGA_000012 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CHTE |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
1 |
Yu Sun |
?/. |
- |
c.849-129_849-128dup |
r.(=) |
p.(=) |
Maternal (inferred) |
- |
VUS |
g.15343402_15343403dup |
g.15325280_15325281dup |
- |
- |
PIGA_000017 |
- |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
- |
CHTE |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
1 |
Yu Sun |
-?/. |
- |
c.849-129_849-128dup |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.15343402_15343403dup |
g.15325280_15325281dup |
PIGA(NM_002641.3):c.849-129_849-128dupTT |
- |
PIGA_000071 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.849-71G>A |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.15343345C>T |
g.15325223C>T |
PIGA(NM_002641.3):c.849-71G>A |
- |
PIGA_000041 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.849-5A>G |
r.spl? |
p.(Arg283Serfs*15) |
Unknown |
- |
pathogenic |
g.15343279T>C |
g.15325157T>C |
- |
- |
PIGA_000055 |
Nonsense mutation |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG |
Peripheral blood |
- |
MCAHS2;GPIBD4 |
IV:4 |
PubMed: Yang et al., 2018 |
WES performed on two trios (the proband's family and his affected maternal cousin's family) from a nonconsanguineous
Chinese family pedigree with hypotonia‐encephalopathy‐seizures disease history and putative X‐linked recessive inheritance. IV:4 is the second son of healthy parent. |
M |
no |
China |
Chinese |
00y02m |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
- |
c.849-5A>G |
r.spl? |
p.(Arg283Serfs*15) |
Unknown |
- |
pathogenic |
g.15343279T>C |
g.15325157T>C |
- |
- |
PIGA_000055 |
Nonsense mutation.
The single‐nucleotide substitution is located in intron 3 of the PIGA gene and within the splice acceptor consensus sequence. In silico tools predict that this intronic variant may alter normal splicing, causing a four base pair insertion which creates a frameshift and a premature stop codon at position 297 |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ-NG |
Peripheral blood |
- |
MCAHS2;GPIBD4 |
IV:2 |
PubMed: Yang et al., 2018 |
Maternal cousin of individual IV:4 from the same paper. |
M |
no |
China |
Chinese |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
- |
c.849-5A>G |
r.spl? |
p.(Arg283Serfs*15) |
Unknown |
- |
pathogenic |
g.15343279T>C |
g.15325157T>C |
- |
- |
PIGA_000055 |
Nonsense mutation.
The single‐nucleotide substitution is located in intron 3 of the PIGA gene and within the splice acceptor consensus sequence.In silico tools predict that this intronic variant may alter normal splicing, causing a four base pair insertion which creates a frameshift and a premature stop codon at position 297. |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
Peripheral blood |
WES |
MCAHS2;GPIBD4 |
III:5 |
PubMed: Yang et al., 2018 |
Uncle of individual IV:2 (brother of IV:2's mother). |
M |
no |
China |
Chinese |
01y |
- |
- |
- |
1 |
Philippe Campeau |
-?/. |
- |
c.933T>C |
r.(?) |
p.(Thr311=) |
Unknown |
- |
likely benign |
g.15343190A>G |
g.15325068A>G |
PIGA(NM_002641.3):c.933T>C (p.T311=) |
- |
PIGA_000083 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.954C>T |
r.(?) |
p.(Ile318=) |
Unknown |
- |
likely benign |
g.15343169G>A |
g.15325047G>A |
PIGA(NM_002641.3):c.954C>T (p.I318=) |
- |
PIGA_000082 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.971G>T |
r.(?) |
p.(Cys324Phe) |
Unknown |
- |
pathogenic |
g.15343152C>A |
g.15325030C>A |
- |
- |
PIGA_000048 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
- |
c.971G>T |
r.(?) |
p.(Cys324Phe) |
Unknown |
- |
likely pathogenic |
g.15343152C>A |
g.15325030C>A |
- |
- |
PIGA_000048 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.981+8G>A |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.15343134C>T |
g.15325012C>T |
PIGA(NM_002641.3):c.981+8G>A |
- |
PIGA_000070 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.981+8G>A |
r.(=) |
p.(=) |
Unknown |
- |
likely benign |
g.15343134C>T |
- |
PIGA(NM_002641.3):c.981+8G>A |
- |
PIGA_000070 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/. |
- |
c.989G>A |
r.(?) |
p.(Ser330Asn) |
Maternal (confirmed) |
- |
likely pathogenic |
g.15342986C>T |
g.15324864C>T |
- |
- |
PIGA_000051 |
- |
PubMed: Tarailo-Graovac et al. 2015 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
peripheral blood |
WES |
MGORS3 |
- |
PubMed: Tarailo-Graovac 2015 |
- |
M |
no |
- |
Chinese |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
4 |
c.1030_1032del |
r.(?) |
p.(Leu344del) |
Unknown |
- |
pathogenic |
g.15342943_15342945del |
g.15324821_15324823del |
- |
- |
PIGA_000038 |
This variant was not found in the 1000 Genomes Project or Exome Variant Server databases. CD59 surface expression was normal in red blood cells, however, other GPI-anchored proteins were reduced in granulocytes. |
PubMed: Swoboda et al 2014 |
- |
rs587777399 |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
MCAHS2;GPIBD4 |
- |
PubMed: Swoboda et al 2014 |
Four generation family with three affected males and three female carriers. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
- |
c.1064T>C |
r.(?) |
p.(Leu355Ser) |
Unknown |
- |
pathogenic |
g.15342911A>G |
g.15324789A>G |
- |
- |
PIGA_000059 |
Heterozygous mutation. |
- |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ-NG-I |
- |
Targeted sequencing on an Illumina MiSeq platform and targeted, exon-level microarray copy number analysis. |
EIEE |
Patient_32 |
PubMed: Trump et al., 2016 |
Mutation found in a gene panel |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
?/. |
- |
c.1202T>G |
r.(?) |
p.(Val401Gly) |
Unknown |
- |
VUS |
g.15339881A>C |
g.15321759A>C |
- |
- |
PIGA_000081 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
6 |
c.1234C>T |
r.(?) |
p.(Arg412*) |
Maternal (confirmed) |
- |
pathogenic |
g.15339849G>A |
g.15321727G>A |
- |
- |
PIGA_000033 |
Mutation segregated with affected males and carriers. Absent in 409 controls. Transfection of p.Arg412(∗) PIGA construct into PIGA-null cells showed partial restoration of GPI-anchored proteins, which suggest partial activity. |
PubMed: Johnston et al 2012 |
- |
rs387906726 |
Germline |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
MCAHS2;GPIBD4 |
- |
PubMed: Johnston et al 2012 |
Four generation family with two female carriers and three affected males with multiple congenital anomalies-hypotonia-seizures syndrome-2. |
- |
- |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
6 |
c.1234C>T |
r.(?) |
p.(Arg412*) |
Unknown |
- |
pathogenic |
g.15339849G>A |
g.15321727G>A |
- |
- |
PIGA_000033 |
Expression of GPI-anchored proteins in PIGA-deficient JY5 cells was only partially restored after transfection. |
PubMed: Kato et al 2014 |
- |
rs387906726 |
Unknown |
yes |
- |
- |
- |
- |
DNA |
SEQ-NG |
- |
- |
MCAHS2;GPIBD4 |
- |
PubMed: Kato et al 2014 |
6-old-year patient. |
M |
- |
Japan |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
- |
c.1234C>T |
r.(?) |
p.(Arg412*) |
Maternal (confirmed) |
- |
pathogenic |
g.15339849G>A |
g.15321727G>A |
- |
- |
PIGA_000033 |
Hemizygous |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
Peripheral blood |
WES |
SGBS |
P1 |
PubMed: Fauth et al., 2016 |
- |
M |
no |
Bosnia and Herzegovina;Switzerland |
European |
00y00m15d |
- |
- |
Anti-epileptic medications |
1 |
Philippe Campeau |
+/. |
- |
c.1234C>T |
r.(?) |
p.(Arg412*) |
Maternal (confirmed) |
- |
pathogenic |
g.15339849G>A |
g.15321727G>A |
- |
- |
PIGA_000033 |
Hemizygous mutation. |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
Peripheral blood |
- |
SGBS2 |
P2 |
PubMed: Fauth et al., 2016 |
- |
M |
no |
Austria;Dominican Republic |
- |
00y03m |
- |
- |
- |
1 |
Philippe Campeau |
+/. |
6 |
c.1234C>T |
r.(?) |
p.(Arg412*) |
Maternal (confirmed) |
- |
pathogenic |
g.15339849G>A |
g.15321727G>A |
- |
- |
PIGA_000033 |
Hemizygous mutation |
- |
- |
- |
Germline |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
paraffin‐embedded liver tissue |
WES |
SGBS2 |
P3 |
PubMed: Fauth et al., 2016 |
older brother of patient 2. Stillborn at 32+2w. |
M |
no |
Austria;Dominican Republic |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
-?/. |
- |
c.1261G>A |
r.(?) |
p.(Gly421Ser) |
Unknown |
- |
likely benign |
g.15339822C>T |
g.15321700C>T |
- |
- |
PIGA_000047 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
./. |
6 |
c.1325_1356dup |
r.(?) |
p.(Val453*) |
Unknown |
- |
pathogenic |
g.15339728_15339759dup |
g.15321606_15321637dup |
- |
- |
PIGA_000029 |
This variant was found with a 2bp insertion at 1355 position. This caused a frameshift and a stop codon at codon 452. 90% of PMN were deficient in CD59, CD24, and CD16. |
PubMed: Nafa et al. 1998 |
- |
- |
Somatic |
yes |
- |
- |
- |
- |
DNA |
SSCA |
- |
- |
PNH1 |
- |
PubMed: Nafa et al 1998 |
Patient with paroxysmal nocturnal hemoglobinuria (OMIM: 300818).Three somatic mutations were found in this patient before bone marrow transplantation, and one novel somatic mutation was found after treatment. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
?/. |
- |
c.1330T>G |
r.(?) |
p.(Trp444Gly) |
Unknown |
- |
VUS |
g.15339753A>C |
g.15321631A>C |
PIGA(NM_002641.3):c.1330T>G (p.W444G) |
- |
PIGA_000069 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+?/+? |
- |
c.1352T>C |
r.(?) |
p.(Ile451Thr) |
Unknown |
- |
likely pathogenic |
g.15339731A>G |
g.15321609A>G |
- |
- |
PIGA_000067 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+/. |
- |
c.1352T>C |
r.(?) |
p.(Ile451Thr) |
Unknown |
- |
pathogenic |
g.15339731A>G |
g.15321609A>G |
- |
- |
PIGA_000067 |
- |
PubMed: Zhu 2015 |
- |
- |
De novo |
- |
- |
- |
- |
- |
DNA |
SEQ, SEQ-NG |
- |
trio WES |
? |
Trio1 |
PubMed: Zhu 2015 |
- |
M |
- |
Israel |
- |
- |
- |
- |
- |
1 |
Johan den Dunnen |
+?/+? |
- |
c.1354G>T |
r.(?) |
p.(Asp452Tyr) |
Unknown |
- |
likely pathogenic |
g.15339729C>A |
g.15321607C>A |
- |
- |
PIGA_000068 |
- |
PubMed: Knaus et al. 2018 |
- |
- |
Germline/De novo (untested) |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
./. |
6 |
c.1355_1356insAA |
r.(?) |
p.(Asp452Glufs*5) |
Unknown |
- |
pathogenic |
g.15339728_15339729insTT |
g.15321606_15321607insTT |
- |
- |
PIGA_000028 |
This insertion was found with a duplication of the preceding 32 nucleotides. This insertion causes a frameshift and a stop codon at 452 postion. 90% of his PMN were deficient in CD59, CD24, and CD16. |
PubMed: Nafa et al 1998 |
- |
- |
Somatic |
yes |
- |
- |
- |
- |
DNA |
SSCA |
- |
- |
PNH1 |
- |
PubMed: Nafa et al 1998 |
Patient with paroxysmal nocturnal hemoglobinuria (OMIM: 300818).Three somatic mutations were found in this patient before bone marrow transplantation, and one novel somatic mutation was found after treatment. |
M |
- |
- |
- |
- |
- |
- |
- |
1 |
Philippe Campeau |
-?/. |
- |
c.1420G>A |
r.(?) |
p.(Gly474Arg) |
Unknown |
- |
likely benign |
g.15339663C>T |
g.15321541C>T |
PIGA(NM_002641.3):c.1420G>A (p.G474R) |
- |
PIGA_000086 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.1421G>T |
r.(?) |
p.(Gly474Val) |
Unknown |
- |
likely benign |
g.15339662C>A |
g.15321540C>A |
PIGA(NM_002641.3):c.1421G>T (p.G474V) |
- |
PIGA_000080 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-?/. |
- |
c.1421G>T |
r.(?) |
p.(Gly474Val) |
Unknown |
- |
likely benign |
g.15339662C>A |
g.15321540C>A |
PIGA(NM_002641.3):c.1421G>T (p.G474V) |
- |
PIGA_000080 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |