Global Variome shared LOVD
PROM1 (prominin 1)
LOVD v.3.0 Build 30b [
Current LOVD status
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Curator:
Pascal Escher
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_006017.2 transcript reference sequence.
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
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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744 entries on 8 pages. Showing entries 1 - 100.
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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.436>T
r.(?)
p.(Arg146*)
Unknown
-
likely pathogenic
g.16035000G>A
g.16033377G>A
PROM1 c.436>T
-
PROM1_000127
heterozygous
PubMed: Strauss 2018
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
16
PubMed: Strauss 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.630_c.630+8del
r.(?)
p.?
Unknown
-
likely pathogenic
g.16026807_16026815delins13
g.16025184_16025192delins13
PROM1 c.630_c.630+8 del 9 ins 13
-
PROM1_000252
error in annotation, inserted nucleotides not mentioned; heterozygous
PubMed: Strauss 2018
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
5
PubMed: Strauss 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Parent #1
-
likely pathogenic
g.?
-
1984A>T (Lys662*)
-
TRAPPC11_000000
-
PubMed: Huang 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP-029
PubMed: Huang 2017
patient
-
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Parent #1
-
pathogenic (dominant)
g.?
-
Arg373Cys
-
TRAPPC11_000000
-
PubMed: Daiger 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RFS397
PubMed: Daiger 2014
-
-
-
United States
-
-
-
-
-
1
LOVD
+/.
3
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.16035122T>C
-
c.314A>G
-
TRAPPC11_000000
-
PubMed: _Audo-2012
-
-
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
blood
-
retinal disease
-
PubMed: _Audo-2012
false positive, not found by Sanger
-
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.?
r.spl
p.(?)
Unknown
-
VUS
g.16077311_16077529dup
-
PROM1 chr4:16077311_16077529dup
-
TRAPPC11_000000
out of frame exon 1, unsolved
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI2867_004452
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic
g.16077527C>T
g.16075904C>T
-
-
PROM1_000149
-
PubMed: Riera 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
212-gene panel
retinal disease
Fi15/09
PubMed: Riera 2017
patient
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
1
c.7dup
r.(?)
p.(Leu3Profs*28)
Parent #1
-
likely pathogenic
g.16077523dup
g.16075900dup
-
-
PROM1_000120
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
123 gene panel
retinal disease
CIC06642
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
France
-
-
-
-
-
1
Global Variome, with Curator vacancy
-/.
-
c.15C>T
r.(?)
p.(Leu5=)
Unknown
-
benign
g.16077515G>A
g.16075892G>A
-
-
PROM1_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.15C>T
r.(=)
p.(=)
Parent #1
-
likely benign
g.16077515G>A
g.16075892G>A
-
-
PROM1_000048
35 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs10033189
Germline
-
35/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
35
Mohammed Faruq
+?/.
-
c.22del
r.(?)
p.(Leu8Cysfs*51)
Parent #2
ACMG
pathogenic
g.16077510del
g.16075887del
c.22del, p.Leu8fs*
-
PROM1_000254
compound heterozygous
PubMed: Cehajic-Kapetanovic 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
customized HaloPlex enrichment system kit - 117 retinal genes
retinal disease
AR2
PubMed: Cehajic-Kapetanovic 2019
-
M
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.55T>A
r.(?)
p.(Ser19Thr)
Unknown
-
VUS
g.16077475A>T
-
c.55T>A
-
PROM1_000231
-
PubMed: Borràs 2013
-
-
Germline
no
Novel
-
-
-
DNA
SEQ-NG, SEQ
blood
-
retinal disease
RP-93
PubMed: Borràs 2013
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
?/.
-
c.55T>G
r.(?)
p.(Ser19Ala)
Unknown
-
VUS
g.16077475A>C
g.16075852A>C
-
-
PROM1_000177
-
PubMed: Wang 2014
-
rs189108830
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
59
PubMed: Wang 2014
-
M
-
United States
-
-
-
-
-
1
LOVD
-?/.
1
c.55T>G
r.(?)
p.(Ser19Ala)
Unknown
-
likely benign
g.16077475A>C
-
c.55T>G
-
PROM1_000177
-
PubMed: González-del Pozo-2011
-
-
Germline
no
2/200 controls
-
-
-
DNA
arraySEQ, MLPA
-
-
retinal disease
-
PubMed: González-del Pozo-2011
-
-
-
-
Spanish
-
-
-
-
2
LOVD
-/.
-
c.129C>T
r.(?)
p.(Thr43=)
Unknown
-
benign
g.16077401G>A
g.16075778G>A
-
-
PROM1_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.129C>T
r.(=)
p.(=)
Parent #1
-
likely benign
g.16077401G>A
g.16075778G>A
-
-
PROM1_000047
36 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs10033086
Germline
-
36/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
36
Mohammed Faruq
+?/.
-
c.139del
r.(?)
p.(His47Ilefs*12)
Parent #2
-
likely pathogenic
g.16077393del
g.16075770del
c.139_139delC
-
PROM1_000148
-
PubMed: Huang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
283-gene panel
retinal disease
RP 066
PubMed: Huang 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.139del
r.(?)
p.(His47IlefsTer12)
Parent #1
-
pathogenic (recessive)
g.16077393del
g.16075770del
c.139delC
-
PROM1_000148
-
PubMed: Xu 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP233
PubMed: Xu 2014
family
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.139del
r.(?)
p.(His47IlefsTer12)
Unknown
-
likely pathogenic (recessive)
g.16077393del
g.16075770del
c.139delC
-
PROM1_000148
-
PubMed: Xu 2014
-
-
Germline
-
2/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP160
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
1
c.139del
r.(?)
p.(His47Ilefs*12)
Unknown
-
likely pathogenic (recessive)
g.16077391del
-
c.139delC
-
PROM1_000148
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.139del
r.(?)
p.(His47Ilefs*12)
Unknown
-
likely pathogenic (recessive)
g.16077391del
-
c.139delC
-
PROM1_000148
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, MLPA
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.139del
r.(?)
p.(His47Ilefs*12)
Parent #1
ACMG
pathogenic
g.16077393del
g.16075770del
PROM1 c.[139del];[242dupA], V1: c.139delC, (p.His47IlefsTer12)
-
PROM1_000148
alleles in trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F009
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.139del
r.(?)
p.(His47Ilefs*12)
Unknown
ACMG
pathogenic
g.16077393del
g.16075770del
PROM1 c.[139del];[139=], V1: c.139delC, (p.His47IlefsTer12)
-
PROM1_000148
heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F103
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.139del
r.(?)
p.(His47Ilefs*12)
Parent #2
ACMG
pathogenic
g.16077393del
g.16075770del
PROM1 c.[139del];[631-15_631-10del], V2: c.139delC, (p.His47IlefsTer12)
-
PROM1_000148
alleles in trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F235
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
-
c.139del
r.(?)
p.(His47IlefsTer12)
Maternal (confirmed)
-
likely pathogenic
g.16077393del
g.16075770del
PROM1 c.139del:p.His47Ilefs*12
-
PROM1_000148
compound heterozygous
PubMed: Ragi 2019
-
rs747512450
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
whole-exome sequencing
retinal disease
II:2
PubMed: Ragi 2019
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.139delC
r.(?)
p.(His47IlefsTer12)
Parent #1
-
pathogenic
g.16077393del
g.16075770del
PROM1 c.[139del];[242dupA]; p.(His47IlefsTer12)
-
PROM1_000148
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0.000389; GnomAD_All: 0.0000281
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F009
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.139delC
r.(?)
p.(His47IlefsTer12)
Parent #1
-
pathogenic
g.16077393del
g.16075770del
PROM1 c.[139del];[139=]; p.(His47IlefsTer12)
-
PROM1_000148
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0.000389; GnomAD_All: 0.0000281
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F103
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.139delC
r.(?)
p.(His47IlefsTer12)
Parent #2
-
pathogenic
g.16077393del
g.16075770del
PROM1 c.[139del];[631-15_631-10del]; p.(His47IlefsTer12)
-
PROM1_000148
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0.000389; GnomAD_All: 0.0000281
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F235
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
-?/.
-
c.152C>T
r.(?)
p.(Pro51Leu)
Unknown
-
likely benign
g.16077378G>A
-
PROM1(NM_001145847.1):c.152C>T (p.P51L)
-
PROM1_000241
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.155T>C
r.(?)
p.(Ile52Thr)
Unknown
-
likely pathogenic
g.16077375A>G
g.16075752A>G
c.155T>C; p.I52T
-
PROM1_000183
-
PubMed: Kersten 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG
-
Whole-exome sequencing
retinal disease
?
PubMed: Kersten 2018
-
F
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.158G>A
r.(?)
p.(Gly53Asp)
Unknown
-
VUS
g.16077372C>T
g.16075749C>T
-
-
PROM1_000078
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs755064227
Germline
-
2/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
2
Yoshito Koyanagi
?/.
2
c.158G>A
r.(?)
p.(Gly53Asp)
Unknown
-
VUS
g.16077372C>T
g.16075749C>T
PROM1 c.158G>A, p.Gly53Asp
-
PROM1_000078
heterozygous
PubMed: Fujinami 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
whole-exome sequencing
retinal disease
8
PubMed: Fujinami 2020
family 8, proband
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.181A>G
r.(?)
p.(Ile61Val)
Parent #1
-
pathogenic (dominant)
g.16077349T>C
g.16075726T>C
-
-
PROM1_000171
-
PubMed: Consugar 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
238-gene panel
retinal disease
OGI-088-220
PubMed: Consugar 2015
-
-
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.199C>G
r.(?)
p.(Gln67Glu)
Unknown
ACMG
VUS
g.16077331G>C
g.16075708G>C
PROM1 c.[199C>G];[199=], V1: c.199C>G, (p.Gln67Glu)
-
PROM1_000229
heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F217
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
?/.
-
c.199C>G
r.(?)
p.(Gln67Glu)
Parent #1
-
VUS
g.16077331G>C
g.16075708G>C
PROM1 c.[199C>G];[199=]; p.(Gln67Glu)
-
PROM1_000229
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0.000279; GnomAD_All: 0.0000202
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F217
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
1
c.199C>T
r.(?)
p.(Gln67*)
Both (homozygous)
-
pathogenic (recessive)
g.16077331G>A
g.16075708G>A
-
-
PROM1_000131
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat107
PubMed: Birtel 2018
family
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.199C>T
r.(?)
p.(Gln67*)
Both (homozygous)
ACMG
pathogenic
g.16077331G>A
g.16075708G>A
PROM1 c.199C>T, p.Gln67*
-
PROM1_000131
homozygous
PubMed: Cehajic-Kapetanovic 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
customized HaloPlex enrichment system kit - 117 retinal genes
retinal disease
AR6
PubMed: Cehajic-Kapetanovic 2019
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.199C>T
r.(?)
p.(Gln67Ter)
Both (homozygous)
ACMG
pathogenic
g.16077331G>A
g.16075708G>A
-
-
PROM1_000131
ACMG PM2, PVS1, PP5
PubMed: Weisschuh 2024
987418
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CRD-804
PubMed: Weisschuh 2024
family, >3 affected
F
-
Germany
-
-
-
-
-
4
Johan den Dunnen
-?/.
-
c.206G>A
r.(?)
p.(Arg69His)
Unknown
-
likely benign
g.16077324C>T
g.16075701C>T
PROM1(NM_001145847.1):c.206G>A (p.R69H), PROM1(NM_006017.3):c.206G>A (p.(Arg69His))
-
PROM1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.206G>A
r.(?)
p.(Arg69His)
Unknown
-
likely benign
g.16077324C>T
-
PROM1(NM_001145847.1):c.206G>A (p.R69H), PROM1(NM_006017.3):c.206G>A (p.(Arg69His))
-
PROM1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.220+1G>C
r.spl
p.?
Unknown
ACMG
pathogenic
g.16077309C>G
-
-
-
PROM1_000269
-
Villafuerte-de la Cruz RA, et al., 2023. Submitted
ClinVar-7898
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
buccal swab
-
STGD4
2324887
Villafuerte-de la Cruz RA, et al., 2023. Submitted
-
M
no
(Mexico)
Hispanic
-
-
-
none
1
Rocio Villafuerte-de la Cruz
+/.
-
c.220+1G>T
r.spl?
p.?
Unknown
-
pathogenic
g.16077309C>A
g.16075686C>A
PROM1(NM_001145847.2):c.220+1G>T
-
PROM1_000108
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.221-20T>G
r.221_276del
p.Asp74Alafs*14
Both (homozygous)
-
pathogenic (recessive)
g.16040644A>C
g.16039021A>C
-
-
PROM1_000275
-
PubMed: Zeuli 2024
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
blood
WGS
retinal disease
Pt-5
PubMed: Zeuli 2024
-
M
-
Italy
white
-
-
-
-
1
Susanne Roosing
+/.
-
c.221-20T>G
r.221_276del
p.Asp74Alafs*14
Both (homozygous)
-
pathogenic (recessive)
g.16040644A>C
g.16039021A>C
-
-
PROM1_000275
-
PubMed: Zeuli 2024
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
blood
WGS
retinal disease
Pt-6
PubMed: Zeuli 2024
-
F
-
Italy
white
-
-
-
-
1
Susanne Roosing
+?/.
-
c.223A>G
r.(?)
p.(Thr75Ala)
Parent #1
-
likely pathogenic
g.16040622T>C
g.16038999T>C
PROM1 c.223A>G, p.T75A
-
PROM1_000215
compound heterozygous
PubMed: Jauregui 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
targeted sequencing
retinal disease
99
PubMed: Jauregui 2020
-
F
-
(United States)
white
-
-
-
-
1
LOVD
+/.
-
c.242dup
r.(?)
p.(Lys82Glufs*4)
Parent #2
ACMG
pathogenic
g.16040603dup
g.16038980dup
PROM1 c.[139del];[242dupA], V2: c.242dupA, (p.Lys82GlufsTer4)
-
PROM1_000228
alleles in trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F009
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.242dupA
r.(?)
p.(Lys82GlufsTer4)
Parent #2
-
pathogenic
g.16040603dup
g.16038980dup
PROM1 c.[139del];[242dupA]; p.(Lys82GlufsTer4)
-
PROM1_000228
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F009
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+/.
-
c.262dup
r.(?)
p.(Ile88Asnfs*2)
Unknown
-
pathogenic
g.16040586dup
g.16038963dup
-
-
PROM1_000046
-
PubMed: Haer-Wigman 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
?
1420
PubMed: Haer-Wigman 2017
patient
-
yes
Netherlands
-
-
-
-
-
1
LOVD
+/.
-
c.262dup
r.(?)
p.(Ile88Asnfs*2)
Unknown
-
pathogenic
g.16040586dup
g.16038963dup
-
-
PROM1_000046
-
PubMed: Haer-Wigman 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
?
1420
PubMed: Haer-Wigman 2017
patient
-
yes
Netherlands
-
-
-
-
-
1
LOVD
-/.
-
c.276+15G>A
r.(=)
p.(=)
Unknown
-
benign
g.16040554C>T
g.16038931C>T
PROM1(NM_001145847.2):c.276+15G>A
-
PROM1_000097
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.277-1G>A
r.spl
p.?
Parent #2
-
pathogenic (recessive)
g.16037385C>T
g.16035762C>T
-
-
PROM1_000169
-
PubMed: Zaneveld 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
Pat145
PubMed: Zaneveld 2015
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.303G>C
r.(?)
p.(Lys101Asn)
Unknown
ACMG
likely pathogenic
g.16037358C>G
g.16035735C>G
PROM1 c.[303G>C];[303=], V1: c.303G>C, (p.Lys101Asn)
-
PROM1_000227
heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F030
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
-
c.303G>C
r.(?)
p.(Lys101Asn)
Parent #1
-
likely pathogenic
g.16037358C>G
g.16035735C>G
PROM1 c.[303G>C];[303=]; p.(Lys101Asn)
-
PROM1_000227
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F030
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
-
c.303+1G>A
r.spl
p.?
Parent #1
-
likely pathogenic (recessive)
g.16037357C>T
g.16035734C>T
-
-
PROM1_000134
-
PubMed: Bryant 2018
-
rs777673930
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
JB189
PubMed: Bryant 2018
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
3i
c.303+1G>A
r.spl
p.(?)
Unknown
-
likely pathogenic
g.16037357C>T
g.16035734C>T
c.303+1G>A, Splicing
-
PROM1_000134
solved, heterozygous
PubMed: Del Pozo-Valero
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing
retinal disease
MD-0235_II:1
PubMed: Del Pozo-Valero
individual ID family_patient or only family number for probands with unknown pedigree
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
3i
c.303+1G>A
r.spl
p.(?)
Unknown
-
likely pathogenic
g.16037357C>T
g.16035734C>T
c.303+1G>A, Splicing
-
PROM1_000134
solved, heterozygous
PubMed: Del Pozo-Valero
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing
retinal disease
MD-0934_III:8
PubMed: Del Pozo-Valero
individual ID family_patient or only family number for probands with unknown pedigree
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
3i
c.303+1G>A
r.spl
p.(?)
Unknown
-
likely pathogenic
g.16037357C>T
g.16035734C>T
c.303+1G>A, Splicing
-
PROM1_000134
solved, heterozygous
PubMed: Del Pozo-Valero
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing
retinal disease
MD-1074
PubMed: Del Pozo-Valero
individual ID family_patient or only family number for probands with unknown pedigree
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.303+1G>A
r.spl
p.(?)
Unknown
-
likely pathogenic
g.16037357C>T
g.16035734C>T
c.303+1G>A, r.spl
-
PROM1_000134
different transcript, ENST00000447510: 70: heterozygous
PubMed: Wolock 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
3922
PubMed: Wolock 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.303+1G>A
r.spl?
p.?
Unknown
-
pathogenic
g.16037357C>T
-
-
-
PROM1_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3i
c.303+2T>C
r.spl
p.(?)
Unknown
-
likely pathogenic
g.16037356A>G
g.16035733A>G
c.303+2T>C, Splicing
-
PROM1_000205
solved, homozygous
PubMed: Del Pozo-Valero
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing
retinal disease
RP-0878_III:6
PubMed: Del Pozo-Valero
individual ID family_patient or only family number for probands with unknown pedigree
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.303+2T>C
r.spl
p.(?)
Unknown
-
likely pathogenic
g.16037356A>G
g.16035733A>G
c.303+2T>C, r.spl
-
PROM1_000205
different transcript, ENST00000447510: 70: heterozygous
PubMed: Wolock 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
4246
PubMed: Wolock 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
3i
c.303+2T>C
r.(?)
p.(?)
Both (homozygous)
-
likely pathogenic
g.16037356A>G
g.16035733A>G
PROM1 IVS3 c.303+2T>C p.(?), IVS3 c.303+2T>C p.(?)
-
PROM1_000205
homozygous
PubMed: Martin Merida 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
RP-0878
PubMed: Martin Merida 2019
-
?
-
Spain
-
-
-
-
-
1
LOVD
-/.
-
c.303+6G>A
r.(=)
p.(=)
Unknown
-
benign
g.16037352C>T
g.16035729C>T
PROM1(NM_001145847.2):c.277-2220G>A
-
PROM1_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.303+6G>A
r.(=)
p.(=)
Unknown
-
benign
g.16037352C>T
g.16035729C>T
PROM1(NM_001145847.2):c.277-2220G>A
-
PROM1_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
4
c.314A>G
r.(?)
p.(Tyr105Cys)
Unknown
-
VUS
g.16035122T>C
g.16033499T>C
c.314A>G, p.Tyr105Cys
-
TRAPPC11_000000
unsolved
PubMed: Del Pozo-Valero
-
-
Germline
no
-
-
-
-
DNA
SEQ-NG
blood
this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing
retinal disease
MD-0875
PubMed: Del Pozo-Valero
individual ID family_patient or only family number for probands with unknown pedigree
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
5
c.334T>C
r.(?)
p.(Cys112Arg)
Maternal (inferred)
-
likely pathogenic
g.16035102A>G
g.16033479A>G
PROM1 c.334T>C, p.Cys112Arg
-
PROM1_000253
heterozygous
PubMed: Fujinami 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
whole-exome sequencing
retinal disease
7
PubMed: Fujinami 2020
family 7, proband
M
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.376G>A
r.(?)
p.(Val126Met)
Unknown
-
VUS
g.16035060C>T
g.16033437C>T
PROM1(NM_001145847.2):c.349G>A (p.V117M)
-
PROM1_000096
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
c.376G>A
r.(?)
p.(Val292Met)
Unknown
-
VUS
g.16035060C>T
-
p.V126M
-
PROM1_000096
-
PubMed: Matsui 2015
-
-
Germline
-
-
-
-
-
DNA
PE
-
-
retinal disease
-
PubMed: Matsui 2015
-
F
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.380G>A
r.(?)
p.(Gly127Glu)
Both (homozygous)
-
pathogenic (recessive)
g.16035056C>T
g.16033433C>T
-
-
PROM1_000157
-
PubMed: Tiwari 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
Case71094
PubMed: Tiwari 2016
see paper
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
3
c.380G>A
r.(?)
p.(Cys127Tyr)
Unknown
-
likely pathogenic
g.16035056C>T
-
c.380G>A
-
PROM1_000157
-
PubMed: Maggi_2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
3
c.380G>A
r.(?)
p.(Cys127Tyr)
Unknown
-
likely pathogenic
g.16035056C>T
-
c.380G>A
-
PROM1_000157
-
PubMed: Maggi_2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/?
-
c.400C>T
r.(?)
p.(Arg134Cys)
Maternal (confirmed)
-
pathogenic (maternal)
g.16035036G>A
g.16033413G>A
PROM1, c.400C > T, p.(Arg134Cys)
-
PROM1_000197
-
PubMed: Surl 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
Unknown 1071
PubMed: Lee 2019
Only one mutation identified in the ABCA4 gene. Furthermore, a mutation (c.400C>T) in PROM1 was found.
F
no
-
white (German-Czech-Hungarian)
-
-
-
-
1
Stéphanie Cornelis
+?/.
-
c.400C>T
r.(?)
p.(Arg134Cys)
Unknown
-
likely pathogenic
g.16035036G>A
g.16033413G>A
c.400C>T, r.(?)
-
PROM1_000197
different transcript, ENST00000447510: 70: heterozygous
PubMed: Wolock 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
4337
PubMed: Wolock 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.421G>A
r.(?)
p.(Gly141Arg)
Unknown
-
VUS
g.16035015C>T
g.16033392C>T
-
-
PROM1_000095
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.430C>T
r.(?)
p.(His144Tyr)
Unknown
-
VUS
g.16035006G>A
g.16033383G>A
PROM1(NM_001145847.1):c.403C>T (p.H135Y)
-
PROM1_000112
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.436C>T
r.(?)
p.(Arg146*)
Both (homozygous)
-
pathogenic (recessive)
g.16035000G>A
-
4:16035000G>A ENST00000510224.1:c.436C>T (Arg146Ter)
-
PROM1_000127
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
B240220
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
4
c.436C>T
r.(?)
p.(Arg146*)
Parent #1
-
pathogenic (recessive)
g.16035000G>A
g.16033377G>A
-
-
PROM1_000127
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat106
PubMed: Birtel 2018
patient
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.436C>T
r.(?)
p.(Arg146Ter)
Parent #1
-
likely pathogenic
g.16035000G>A
g.16033377G>A
-
-
PROM1_000127
-
PubMed: Huang 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
284 gene panel
retinal disease
W205-1
PubMed: Huang 2015
-
M
yes
China
-
-
-
-
-
1
LOVD
+?/.
4,12
c.436C>T
r.(?)
p.(Arg146*)
Unknown
-
likely pathogenic
g.16035000G>A
g.16033377G>A
PROM1 c.436C>T c.1354dup, p.Arg146* p.Tyr452Leufs*13
-
PROM1_000127
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
143
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
-
c.436C>T
r.(?)
p.(Arg146*)
Parent #2
ACMG
pathogenic
g.16035000G>A
g.16033377G>A
c.436C>T, p.Arg146*
-
PROM1_000127
compound heterozygous
PubMed: Cehajic-Kapetanovic 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
-
customized HaloPlex enrichment system kit - 117 retinal genes
retinal disease
AR3
PubMed: Cehajic-Kapetanovic 2019
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.436C>T
r.(?)
p.(Arg146*)
Unknown
ACMG
pathogenic
g.16035000G>A
-
-
-
PROM1_000127
-
Villafuerte-de la Cruz RA, et al., 2023. Submitted
ClinVar-1065650
rs780697796
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
buccal swab
-
STGD4
2694968
Villafuerte-de la Cruz RA, et al., 2023. Submitted
-
F
no
Mexico
Hispanic
-
-
-
none
1
Rocio Villafuerte-de la Cruz
?/.
4
c.437G>A
r.(?)
p.(Arg146Gln)
Unknown
-
VUS
g.16034999C>T
g.16033376C>T
c.437G>A, p. Arg146Gln
-
PROM1_000204
unsolved
PubMed: Del Pozo-Valero
-
-
Germline
no
-
-
-
-
DNA
SEQ-NG
blood
this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing
retinal disease
MD-0001
PubMed: Del Pozo-Valero
individual ID family_patient or only family number for probands with unknown pedigree
?
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.437G>A
r.(?)
p.(Arg146Gln)
Unknown
ACMG
VUS
g.16034999C>T
g.16033376C>T
-
-
PROM1_000204
ACMG PM2; no variant 2nd chromosome
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
UD-103
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.439C>T
r.spl?
p.(Gln147*)
Maternal (confirmed)
ACMG
pathogenic
g.16034997G>A
g.16033374G>A
-
-
PROM1_000179
-
Tracewska 2021, MolVis in press
-
-
Germline
yes
0 (in-house database, ~5000 samples)
-
-
-
DNA
SEQ-NG-I, SEQ
blood
targeted resequencing using MIPs library prep, 108-gene panel
retinal disease
394
Tracewska 2021, MolVis in press
proband
M
no
Poland
Slavic
-
-
yes
-
1
LOVD
+/.
-
c.442A>T
r.(?)
p.(Lys148*)
Both (homozygous)
-
likely pathogenic (recessive)
g.16034994T>A
-
-
-
PROM1_000121
-
PubMed: Jinda 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
retinal disease
RP069
PubMed: Jinda 2014
-
M
-
Thailand
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.442A>T
r.(?)
p.(Lys148*)
Both (homozygous)
-
likely pathogenic (recessive)
g.16034994T>A
g.16033371T>A
-
-
PROM1_000121
-
PubMed: Jinda 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP069
PubMed: Jinda 2017
patient
-
-
Thailand
-
-
-
-
-
1
LOVD
?/.
-
c.454C>T
r.(?)
p.(Pro152Ser)
Unknown
-
VUS
g.16034982G>A
-
PROM1(NM_006017.3):c.454C>T (p.P152S)
-
PROM1_000240
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.485del
r.(?)
p.(Leu162Argfs*3)
Parent #1
-
likely pathogenic
g.16034951del
g.16033328del
c.485_485delT
-
PROM1_000147
-
PubMed: Huang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
283-gene panel
retinal disease
RP 066
PubMed: Huang 2018
-
-
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.489G>A
r.(?)
p.(Leu163=)
Unknown
-
likely benign
g.16034947C>T
g.16033324C>T
PROM1(NM_001145847.2):c.462G>A (p.L154=)
-
PROM1_000094
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4i
c.510-1G>A
r.spl
p.?
Unknown
-
pathogenic
g.16026936C>T
g.16025313C>T
-
-
PROM1_000007
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
-
-
RP
-
-
-
-
-
(United States)
-
-
-
-
-
1
Feng Wang
+/.
3i
c.510-1G>A
r.(?)
p.?
Unknown
-
pathogenic
g.16026936C>T
-
c.510-1G>A
-
PROM1_000007
-
PubMed: Wang-2014
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ-NG
blood or a saliva sample
-
retinal disease
-
PubMed: Wang-2014
-
-
no
-
-
-
-
-
-
1
LOVD
+?/.
3i
c.510-1G>A
r.spl?
p.(?)
Both (homozygous)
-
likely pathogenic
g.16026936C>T
-
c.510-1G>A
-
PROM1_000007
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
LCA
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+?/.
6
c.524A>C
r.(?)
p.(Tyr175Ser)
Parent #1
-
likely pathogenic
g.16026921T>G
g.16025298T>G
-
-
PROM1_000006
predicted to affect function, but insufficient evidence for definite conclusion
PubMed: Neveling 2012
-
-
Germline
no
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
+?/.
4
c.544C>T
r.(?)
p.(Gln182*)
Parent #1
-
likely pathogenic
g.16026901G>A
-
c.544C>T
-
PROM1_000264
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
retinal disease
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
?/.
-
c.604C>G
r.(?)
p.(Arg202Gly)
Unknown
-
VUS
g.16026841G>C
g.16025218G>C
PROM1(NM_001145847.1):c.577C>G (p.R193G), PROM1(NM_001145847.2):c.577C>G (p.R193G), PROM1(NM_006017.3):c.604C>G (p.(Arg202Gly))
-
PROM1_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.604C>G
r.(?)
p.(Arg202Gly)
Unknown
-
likely benign
g.16026841G>C
-
PROM1(NM_001145847.1):c.577C>G (p.R193G), PROM1(NM_001145847.2):c.577C>G (p.R193G), PROM1(NM_006017.3):c.604C>G (p.(Arg202Gly))
-
PROM1_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.604C>G
r.(?)
p.(Arg202Gly)
Unknown
-
likely pathogenic
g.16026841G>C
g.16025218G>C
-
-
PROM1_000093
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
12DG0402
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
?/.
5
c.604C>G
r.(?)
p.(Arg202Gly)
Unknown
-
VUS
g.16026841G>C
g.16025218G>C
c.604C>G, p.Arg202Gly
-
PROM1_000093
unsolved
PubMed: Del Pozo-Valero
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing
retinal disease
RP-0365
PubMed: Del Pozo-Valero
individual ID family_patient or only family number for probands with unknown pedigree
?
-
Spain
-
-
-
-
-
1
LOVD
?/.
5
c.604C>G
r.(?)
p.(Arg202Gly)
Unknown
-
VUS
g.16026841G>C
g.16025218G>C
c.604C>G, p.Arg202Gly
-
PROM1_000093
unsolved
PubMed: Del Pozo-Valero
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing
retinal disease
RP-1740
PubMed: Del Pozo-Valero
individual ID family_patient or only family number for probands with unknown pedigree
?
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.604C>G
r.(?)
p.(Arg202Gly)
Unknown
ACMG
VUS
g.16026841G>C
g.16025218G>C
-
-
PROM1_000093
ACMG PP5, BP6
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
SRP-1250
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
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