Global Variome shared LOVD
PRPH2 (peripherin 2 (retinal degeneration, slow))
LOVD v.3.0 Build 30b [
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Curator:
Manon Peeters
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_000322.4 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
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
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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2482 entries on 25 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
+/+
1
c.-281_(581+1_582-1){0}
r.?
p.?
Unknown
-
pathogenic (dominant)
g.(42672350_42689491)_(42690353_?)del
g.(42704612_42721753)_(42722615_?)del
c.1-?_581+?del
-
PRPH2_000152
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
yes
1/96
-
-
-
DNA
SEQ
blood
-
retinal disease
CIC03621
PubMed: Boulanger-Scemama 2015
index case
-
no
France
white
-
-
-
-
1
Manon Peeters
+/+
1
c.-281_(581+1_582-1){0}
r.?
p.?
Unknown
-
pathogenic (dominant)
g.(42672350_42689491)_(42690353_?)del
g.(42704612_42721753)_(42722615_?)del
c.1-?_581+?del
-
PRPH2_000152
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
yes
1/96
-
-
-
DNA
SEQ
blood
-
retinal disease
CIC03620
PubMed: Boulanger-Scemama 2015
Son index case
M
no
France
white
-
-
-
-
1
Manon Peeters
-/.
-
c.-11A>C
r.(?)
p.(=)
Unknown
-
benign
g.42690083T>G
g.42722345T>G
-
-
PRPH2_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.-11A>C
r.(?)
p.(=)
Unknown
ACMG
benign
g.42690083T>G
g.42722345T>G
-
-
PRPH2_000042
ACMG BS1, BS4, BP4
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs114062933
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/-
1
c.-11A>C
r.(?)
p.?
Unknown
-
VUS
g.42690083T>G
g.42722345T>G
-
-
PRPH2_000042
-
PubMed: Boon 2007
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs114062933
Germline
-
1/15
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
Patient 15
PubMed: Boon 2007
index case
F
no
Netherlands
white
-
-
-
-
1
Manon Peeters
-?/.
1
c.-11A>C
r.(=)
p.(=)
Unknown
-
likely benign (dominant)
g.42690083T>G
-
c.-11A>C
-
PRPH2_000042
-
PubMed: Anasagasti-2013
-
rs114062933
Germline
yes
0.03
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
_1_1i
c.-286_(581+1_582-1){0}
r.(?)
p.?
Parent #1
-
likely pathogenic (dominant)
g.(42672350_42689491)_(42690353_?)del
g.(42704612_42721753)_(42722615_?)del
c.1-c581+?del
-
PRPH2_000152
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
123 gene panel
retinal disease
CIC03621
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
France
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
_1_1i
c.-286_(581+1_582-1){0}
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(42672350_42689491)_(42690353_?)del
g.(42704612_42721753)_(42722615_?)del
-
-
PRPH2_000152
ACMG PVS1, PM1, PM2
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2i_3_
c.828+1797_*1700{0}ins(?)
r.?
p.?
Unknown
-
likely pathogenic
g.42663546_42670306delinsN[?]
-
del ex3 insertion ALU Chr6:42663546-42670306del_insALU
-
PRPH2_000131
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
900
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+/.
1
c.1A>T
r.(?)
p.(Met1?)
Unknown
ACMG
pathogenic
g.42690072T>A
g.42722334T>A
-
-
PRPH2_000295
ACMG PVS1, PM1, PM2, PP5,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.1A>T
r.(?)
p.(Met1?)
Unknown
-
pathogenic (dominant)
g.42690072T>A
g.42722334T>A
Met1Leu
-
PRPH2_000295
-
PubMed: Zhao 2015
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Unknown
-
1/82
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RD1200008
PubMed: Zhao 2015
index case
F
-
Northern Ireland
white
-
-
-
-
1
Manon Peeters
+/.
1
c.2T>C
r.(?)
p.(Met1?)
Parent #1
-
pathogenic (dominant)
g.42690071A>G
g.42722333A>G
-
-
PRPH2_000128
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat124
PubMed: Birtel 2018
family
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
1
c.2T>C
r.(?)
p.(Met1?)
Parent #1
-
pathogenic (dominant)
g.42690071A>G
g.42722333A>G
-
-
PRPH2_000128
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Pat144
PubMed: Birtel 2018
patient
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
1
c.2T>C
r.(?)
p.(Met1?)
Parent #1
-
pathogenic (dominant)
g.42690071A>G
g.42722333A>G
-
-
PRPH2_000128
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat150
PubMed: Birtel 2018
family
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
1
c.2T>C
r.(?)
p.(Met1?)
Unknown
ACMG
pathogenic
g.42690071A>G
g.42722333A>G
-
-
PRPH2_000128
ACMG PVS1, PM1, PM2, PM5, PP5
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs121918565
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
pathogenic (dominant)
g.42690071A>G
g.42722333A>G
c.2T>C; p.Met1?
-
PRPH2_000128
-
PubMed: Felbor 1997
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs121918565
Unknown
-
1/28
-NlaIII
-
-
DNA
PCR, SSCA, SEQ
blood
-
retinal disease
799
PubMed: Felbor 1997
index case
-
-
Germany
white
-
-
-
-
1
Manon Peeters
+?/+
1
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic (dominant)
g.42690071A>G
g.42722333A>G
c.2T>C; p.M1T
-
PRPH2_000128
-
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs121918565
Unknown
-
1/147
-NlaIII
-
-
DNA
MIPsm, SEQ
blood
-
retinal disease
Patient 1
PubMed: Peeters 2021
,
Journal: Peeters 2021
index case
F
no
Germany
white
-
-
-
-
1
Manon Peeters
+?/.
1
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.42690071A>G
g.42722333A>G
PRPH2 c.2T>C, p.Met1?
-
PRPH2_000128
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
146
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
1
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.42690071A>G
g.42722333A>G
PRPH2 c.2T>C, p.Met1?
-
PRPH2_000128
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
150
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
1
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.42690071A>G
g.42722333A>G
PRPH2 c.2T>C, Met1?
-
PRPH2_000128
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
157
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
1
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.42690071A>G
g.42722333A>G
PRPH2 c.2T>C, p.Met1?
-
PRPH2_000128
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
158
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
1
c.2T>C
r.(?)
p.(Met1?)
Unknown
-
likely pathogenic
g.42690071A>G
g.42722333A>G
PRPH2 c.2T>C, p.Met1?
-
PRPH2_000128
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
166
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
1
c.4G>T
r.(?)
p.(Ala2Ser)
Parent #1
-
likely pathogenic
g.42690069C>A
g.42722331C>A
-
-
PRPH2_000147
-
PubMed: Ramkumar 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
17-gene panel
retinal disease
-
PubMed: Ramkumar 2017
-
-
-
United States
-
-
-
-
-
1
LOVD
?/.
1
c.4G>T
r.(?)
p.(Ala2Ser)
Unknown
ACMG
VUS
g.42690069C>A
g.42722331C>A
-
-
PRPH2_000147
ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.13C>T
r.?
p.?
Both (homozygous)
-
benign
g.42690060G>A
-
13C>T
-
PRPH2_000343
8/250 healthy controls
PubMed: Bardak 2016
-
rs361524
Unknown
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Bardak 2016
-
-
-
-
-
-
-
-
-
1
LOVD
-/.
1
c.13C>T
r.?
p.?
Unknown
-
benign
g.42690060G>A
-
13C>T
-
PRPH2_000343
64/250 healthy controls
PubMed: Bardak 2016
-
rs361524
Unknown
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Bardak 2016
-
-
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.37C>T
r.(?)
p.(Arg13Trp)
Unknown
-
VUS
g.42690036G>A
g.42722298G>A
-
-
PRPH2_000070
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs61754402
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
+/.
1
c.37C>T
r.(?)
p.(Arg13Trp)
Parent #1
-
pathogenic
g.42690036G>A
-
-
-
PRPH2_000070
-
PubMed: Sohocki 2001
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
retinal disease
-
PubMed: Sohocki 2001
-
-
-
-
-
-
-
-
-
1
Julia Lopez
?/.
1
c.37C>T
r.(?)
p.(Arg13Trp)
Unknown
ACMG
VUS
g.42690036G>A
g.42722298G>A
-
-
PRPH2_000070
ACMG PM5, PP3; ACMG criteria not strong enough to label as pathogenic
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61754402
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
1
c.37C>T
r.(?)
p.(Arg13Trp)
Unknown
-
pathogenic (dominant)
g.42690036G>A
g.42722298G>A
c.37C>T; p.(R13W)
-
PRPH2_000070
-
PubMed: Zaneveld 2015
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61754402
Unknown
-
1/88
AciI-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
13/Can
PubMed: Zaneveld 2015
index case
-
-
Canada
white
-
-
-
-
1
Manon Peeters
+?/.
1
c.38G>A
r.(?)
p.(Arg13Gln)
Unknown
ACMG
likely pathogenic
g.42690035C>T
g.42722297C>T
-
-
PRPH2_000294
ACMG PS4, PM5, PP3
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+?
1
c.38G>A
r.(?)
p.(Arg13Gln)
Unknown
-
likely pathogenic (dominant)
g.42690035C>T
g.42722297C>T
c.38G>A; p.Arg13Gln
-
PRPH2_000294
-
PubMed: Sun 2015
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
-
1/298
-
-
-
DNA
SEQ-NG
blood
WES
retinal disease
HM838
PubMed: Sun 2015
index case
M
-
China
Asia
-
-
-
-
1
Manon Peeters
?/.
-
c.38G>A
r.(?)
p.(Arg13Gln)
Unknown
ACMG
VUS
g.42690035C>T
g.42722297C>T
-
-
PRPH2_000294
ACMG PM2, PM5_SUPPORTING, PP2, PP5
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
STGD-383
PubMed: Weisschuh 2024
family, 2 affected
F
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.40_41insGT
r.(?)
p.(Val14Glyfs*11)
Both (homozygous)
-
likely pathogenic (recessive)
g.42690032_42690033insAC
g.42722294_42722295insAC
c.40_41insGT
-
PRPH2_000095
-
PubMed: Holtan 2020
-
-
Germline
-
1/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
1 homozygous patient
-
-
Norway
-
-
-
-
-
1
Global Variome, with Curator vacancy
?/.
-
c.44A>G
r.(?)
p.(Lys15Arg)
Unknown
-
VUS
g.42690029T>C
g.42722291T>C
-
-
PRPH2_000069
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs555112175
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
?/.
1
c.44A>G
r.(?)
p.(Lys15Arg)
Unknown
ACMG
VUS
g.42690029T>C
g.42722291T>C
-
-
PRPH2_000069
ACMG PS4; ACMG criteria not strong enough to label as pathogenic
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.44A>G
r.(?)
p.(Lys15Arg)
Unknown
-
VUS
g.42690029T>C
g.42722291T>C
c.44A>G; p.K15R
-
PRPH2_000069
-
PubMed: Arai 2015
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
-
1/349
-
-
-
DNA
SEQ
blood
-
retinal disease
Patient 5
PubMed: Arai 2015
index case
-
-
Japan
Asia
-
-
-
-
1
Manon Peeters
+/.
-
c.63G>A
r.(?)
p.(Trp21Ter)
Unknown
-
pathogenic
g.42690010C>T
g.42722272C>T
-
-
PRPH2_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.63G>A
r.(?)
p.(Trp21*)
Unknown
ACMG
pathogenic
g.42690010C>T
g.42722272C>T
-
-
PRPH2_000041
ACMG PVS1, PM2, PP1
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.63G>A
r.(?)
p.(Trp21*)
Unknown
-
pathogenic (dominant)
g.42690010C>T
g.42722272C>T
c.63G>A; p.W21X
-
PRPH2_000041
-
PubMed: Boon 2007
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
yes
2/30
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
Fam_I_III:1
PubMed: Boon 2007
index case, sister of fam_I_III:1
F
no
Netherlands
white
-
-
-
-
1
Manon Peeters
+/+
1
c.63G>A
r.(?)
p.(Trp21*)
Unknown
-
pathogenic (dominant)
g.42690010C>T
g.42722272C>T
c.63G>A; p.W21X
-
PRPH2_000041
-
PubMed: Boon 2007
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
yes
2/30
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
Fam_I_III:2
PubMed: Boon 2007
Sister index case
F
no
Netherlands
white
-
-
-
-
1
Manon Peeters
+/+
1
c.63G>A
r.(?)
p.(Trp21*)
Unknown
-
pathogenic (dominant)
g.42690010C>T
g.42722272C>T
Chr6(GRCh37):g.42690010C>T; p.(Trp21*)
-
PRPH2_000041
-
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
-
3/147
-
-
-
DNA
SEQ-NG
blood
WES
retinal disease
Patient 2
PubMed: Peeters 2021
,
Journal: Peeters 2021
index case
-
no
Netherlands
white
-
-
-
-
1
Manon Peeters
+/+
1
c.63G>A
r.(?)
p.(Trp21*)
Unknown
-
pathogenic (dominant)
g.42690010C>T
g.42722272C>T
Chr6(GRCh37):g.42690010C>T; p.(Trp21*)
-
PRPH2_000041
-
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
-
3/147
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
Patient 3
PubMed: Peeters 2021
,
Journal: Peeters 2021
index case
-
no
Netherlands
white
-
-
-
-
1
Manon Peeters
+/+
1
c.63G>A
r.(?)
p.(Trp21*)
Unknown
-
pathogenic (dominant)
g.42690010C>T
g.42722272C>T
Chr6(GRCh37):g.42690010C>T; p.(Trp21*)
-
PRPH2_000041
-
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
yes
3/147
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
Patient 4
PubMed: Peeters 2021
,
Journal: Peeters 2021
index case
-
no
Netherlands
white
-
-
-
-
1
Manon Peeters
+/+
1
c.63G>A
r.(?)
p.(Trp21*)
Unknown
-
pathogenic (dominant)
g.42690010C>T
g.42722272C>T
Chr6(GRCh37):g.42690010C>T; p.(Trp21*)
-
PRPH2_000041
-
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
yes
3/147
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
Patient 4.1
PubMed: Peeters 2021
,
Journal: Peeters 2021
Sister index case (patient 4)
F
no
Netherlands
white
-
-
-
-
1
Manon Peeters
+/.
1
c.63G>A
r.(?)
p.(Trp21Ter)
Parent #1
ACMG
pathogenic
g.42690010C>T
g.42722272C>T
-
-
PRPH2_000041
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
032210
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
?/.
-
c.68del
r.(?)
p.(Met23Argfs*15)
Unknown
ACMG
likely pathogenic (dominant)
g.42690005del
-
-
-
PRPH2_000352
-
PubMed: Bianco 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
Peripheral Blood Sample
-
maculopathy
X.1
PubMed: Bianco 2023
-
F
no
Italy
Italian
-
-
-
-
1
Lorenzo Bianco
?/.
-
c.68del
r.(?)
p.(Met23Argfs*15)
Unknown
ACMG
likely pathogenic (dominant)
g.42690005del
-
-
-
PRPH2_000352
-
PubMed: Bianco 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ-NG-I
Peripheral Blood Sample
-
maculopathy
XI.1
PubMed: Bianco 2023
-
F
no
Italy
Italian
-
-
-
-
1
Lorenzo Bianco
+/.
1
c.73_74del
r.(?)
p.(Trp25Valfs*19)
Unknown
ACMG
pathogenic
g.42689999_42690000del
g.42722261_42722262del
-
-
PRPH2_000293
ACMG PVS1, PM1, PM2
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755765
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
1
c.73_74del
r.(?)
p.(Trp25Valfs*19)
Maternal (inferred)
-
likely pathogenic (dominant)
g.42689999_42690000del
g.42722261_42722262del
2-bp deletion codon 25
-
PRPH2_000293
-
PubMed: Kajiwara 1993
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755765
Germline
yes
2/6
+MaeII
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
Fam7434_III:1
PubMed: Kajiwara 1993
index case, father of Fam7434_IV:1
M
no
United States
-
-
-
-
-
1
Manon Peeters
+?/+
1
c.73_74del
r.(?)
p.(Trp25Valfs*19)
Paternal (confirmed)
-
likely pathogenic (dominant)
g.42689999_42690000del
g.42722261_42722262del
2-bp deletion codon 25
-
PRPH2_000293
-
PubMed: Kajiwara 1993
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755765
Germline
yes
2/6
+MaeII
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
Fam7434_IV:1
PubMed: Kajiwara 1993
Daughter of index case
F
no
United States
-
-
-
-
-
1
Manon Peeters
+/.
1
c.74_77del
r.(?)
p.(Trp25Serfs*12)
Unknown
ACMG
pathogenic
g.42689997_42690000del
g.42722259_42722262del
-
-
PRPH2_000291
ACMG PVS1, PM1, PM2, PP1
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
1
c.74_77del
r.(?)
p.(Trp25Serfs*12)
Unknown
-
likely pathogenic (dominant)
g.42689997_42690000del
g.42722259_42722262del
c.74_77delGGTT, p.W25SfsX12
-
PRPH2_000291
-
PubMed: Maertz 2015
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
yes
1/3
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
Patient 3
PubMed: Maertz 2015
index case
M
-
Germany
white
-
-
-
-
1
Manon Peeters
?/.
1
c.75G>C
r.(?)
p.(Trp25Cys)
Unknown
ACMG
VUS
g.42689998C>G
g.42722260C>G
-
-
PRPH2_000292
ACMG PP3; ACMG criteria not strong enough to label as pathogenic
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.75G>C
r.(?)
p.(Trp25Cys)
Unknown
-
VUS
g.42689998C>G
g.42722260C>G
c.75G>C; p.Trp25Cys
-
PRPH2_000292
-
PubMed: Reeves 2020
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Unknown
-
1/187
-
-
-
DNA
PCR, SEQ, SEQ-NG-I
blood
-
retinal disease
123
PubMed: Reeves 2020
index case
M
-
United States
(white)
-
-
-
-
1
Manon Peeters
+?/?
1
c.75G>C
r.(?)
p.(Trp25Cys)
Unknown
-
likely pathogenic
g.42689998C>G
g.42722260C>G
p.W25C
-
PRPH2_000292
-
PubMed: Strom 2012
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Unknown
-
1/9
-
-
-
DNA
SEQ-NG
blood
WES
retinal disease
STGD-03
PubMed: Strom 2012
index case
F
-
United States
-
-
-
-
-
1
Manon Peeters
+?/?
1
c.75G>C
r.(?)
p.(Trp25Cys)
Unknown
-
likely pathogenic
g.42689998C>G
g.42722260C>G
p.W25C
-
PRPH2_000292
-
PubMed: Strom 2012
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Unknown
-
1/9
-
-
-
DNA
SEQ-NG
blood
WES
retinal disease
STGD-03
PubMed: Strom 2012
index case
F
-
United States
-
-
-
-
-
1
Manon Peeters
+?/.
1
c.80C>T
r.(?)
p.(Ser27Phe)
Unknown
ACMG
likely pathogenic
g.42689993G>A
g.42722255G>A
-
-
PRPH2_000290
ACMG PS4, PP1, PP3
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755766
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+?
1
c.80C>T
r.(?)
p.(Ser27Phe)
Paternal (confirmed)
-
likely pathogenic (dominant)
g.42689993G>A
g.42722255G>A
C>T transition in the second nucleotide of codon 27; p.Phe27Ser
-
PRPH2_000290
-
PubMed: Fishman 1997
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755766
Germline
yes
3/7
-
-
-
DNA
PCR, DGGE, SSCA
blood
-
retinal disease
Fam_1_II:3
PubMed: Fishman 1997
index case
M
no
Germany
white
-
-
-
-
1
Manon Peeters
+?/+?
1
c.80C>T
r.(?)
p.(Ser27Phe)
Unknown
-
likely pathogenic (dominant)
g.42689993G>A
g.42722255G>A
C>T transition in the second nucleotide of codon 27; p.Phe27Ser
-
PRPH2_000290
-
PubMed: Fishman 1997
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755766
Germline
yes
3/7
-
-
-
DNA
PCR, DGGE, SSCA
blood
-
retinal disease
Fam_1_I:1
PubMed: Fishman 1997
Father index case
M
no
Germany
white
-
-
-
-
1
Manon Peeters
+?/+?
1
c.80C>T
r.(?)
p.(Ser27Phe)
Paternal (confirmed)
-
likely pathogenic (dominant)
g.42689993G>A
g.42722255G>A
C>T transition in the second nucleotide of codon 27; p.Phe27Ser
-
PRPH2_000290
-
PubMed: Fishman 1997
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755766
Germline
yes
3/7
-
-
-
DNA
PCR, DGGE, SSCA
blood
-
retinal disease
Fam_1_II:1
PubMed: Fishman 1997
Brother index case II:3
M
no
Germany
white
-
-
-
-
1
Manon Peeters
?/.
-
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
VUS
g.42689979T>C
g.42722241T>C
-
-
PRPH2_000068
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs61755767
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
?/.
-
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
VUS
g.42689979T>C
g.42722241T>C
PRPH2(NM_000322.4):c.94A>G (p.I32V), PRPH2(NM_000322.5):c.94A>G (p.I32V)
-
PRPH2_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
1
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
ACMG
likely benign
g.42689979T>C
g.42722241T>C
-
-
PRPH2_000068
ACMG BP4
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/-?
1
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
VUS
g.42689979T>C
g.42722241T>C
c.94A>G; p.Ile32Val
-
PRPH2_000068
-
PubMed: Reeves 2020
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
Unknown
-
2/187
-SfaNI
-
-
DNA
PCR, SEQ, SEQ-NG-I
blood
-
retinal disease
153
PubMed: Reeves 2020
index case
M
-
United States
(white)
-
-
-
-
1
Manon Peeters
?/-?
1
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
VUS
g.42689979T>C
g.42722241T>C
c.94A>G; p.Ile32Val
-
PRPH2_000068
-
PubMed: Reeves 2020
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
Unknown
-
2/187
-SfaNI
-
-
DNA
PCR, SEQ, SEQ-NG-I
blood
-
retinal disease
155
PubMed: Reeves 2020
index case
F
-
United States
(white)
-
-
-
-
1
Manon Peeters
-/-?
1
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
benign
g.42689979T>C
g.42722241T>C
c.A94G; p.I32V
-
PRPH2_000068
-
PubMed: de Breuk 2020
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
Unknown
-
1/4740
-SfaNI
-
-
DNA
MIPsm, PCR, SEQ
blood
-
retinal disease
Patient 5 (EUGENDA-407002273)
PubMed: de Breuk 2020
index case
-
no
Netherlands
white
-
-
-
-
1
Manon Peeters
?/-?
1
c.94A>G
r.(?)
p.(Ile32Val)
Both (homozygous)
-
VUS
g.42689979T>C
g.42722241T>C
c.94A>G; p.Ile32Val
-
PRPH2_000068
-
PubMed: Daftarian 2019
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
Germline
yes
4/4
-SfaNI
-
-
DNA
SEQ, SEQ-NG
blood
WES
retinal disease
Fam1_IV-1
PubMed: Daftarian 2019
index case, daughter of fam_1_III:6 and fam_1_III:7, sister of fam_1_IV:2
F
yes
Iran
Arab
-
-
-
-
1
Manon Peeters
?/-?
1
c.94A>G
r.(?)
p.(Ile32Val)
Paternal (inferred)
-
VUS
g.42689979T>C
g.42722241T>C
c.94A>G; p.Ile32Val
-
PRPH2_000068
-
PubMed: Daftarian 2019
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
Germline
yes
4/4
-SfaNI
-
-
DNA
SEQ, SEQ-NG
blood
WES
retinal disease
Fam_1_III-6
PubMed: Daftarian 2019
Father index case and fam_1_IV-2, husband and first cousin fam_1_III:7
M
yes
Iran
Arab
-
-
-
-
1
Manon Peeters
?/-?
1
c.94A>G
r.(?)
p.(Ile32Val)
Maternal (inferred)
-
VUS
g.42689979T>C
g.42722241T>C
c.94A>G; p.Ile32Val
-
PRPH2_000068
-
PubMed: Daftarian 2019
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
Germline
yes
4/4
-SfaNI
-
-
DNA
SEQ, SEQ-NG
blood
WES
retinal disease
Fam_1_III-7
PubMed: Daftarian 2019
Mother index case and fam_1_IV-2, wife and first cousin of fam_1_III:6
F
yes
Iran
Arab
-
-
-
-
1
Manon Peeters
?/-?
1
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
VUS
g.42689979T>C
g.42722241T>C
c.94A>G; p.Ile32Val
-
PRPH2_000068
-
PubMed: Daftarian 2019
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
Germline
yes
4/4
-SfaNI
-
-
DNA
SEQ, SEQ-NG
blood
WES
retinal disease
Fam_1_IV:2
PubMed: Daftarian 2019
Sister index case, daughter of fam_1_III:6 and fam_1_III:7
F
yes
Iran
Arab
-
-
-
-
1
Manon Peeters
+?/-?
1
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
likely pathogenic (dominant)
g.42689979T>C
g.42722241T>C
c.94A>G; p.Ile32Val
-
PRPH2_000068
-
PubMed: Barbazetto 2007
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755767
Unknown
-
1/28
-SfaNI
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
Patient 4
PubMed: Barbazetto 2007
index case
F
-
United States
-
-
-
-
-
1
Manon Peeters
?/.
-
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
VUS
g.42689979T>C
-
-
-
PRPH2_000068
-
-
-
rs61755767
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.94A>G
r.(?)
p.(Ile32Val)
Parent #1
-
likely pathogenic
g.42689979T>C
-
c.94A>G
-
PRPH2_000068
-
PubMed: Maggi_2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
1
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
likely pathogenic
g.42689979T>C
-
c.94A>G
-
PRPH2_000068
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
-?/.
-
c.94A>G
r.(?)
p.(Ile32Val)
Unknown
-
likely benign
g.42689979T>C
-
PRPH2(NM_000322.4):c.94A>G (p.I32V), PRPH2(NM_000322.5):c.94A>G (p.I32V)
-
PRPH2_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.96dup
r.(?)
p.(Ile33Hisfs*12)
Unknown
ACMG
pathogenic
g.42689977dup
g.42722239dup
-
-
PRPH2_000289
ACMG PVS1, PM1, PM2
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755768
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+
1
c.96dup
r.(?)
p.(Ile33Hisfs*12)
Paternal (inferred)
-
likely pathogenic (dominant)
g.42689977dup
g.42722239dup
1-bp insertion at codon 32
-
PRPH2_000289
-
PubMed: Jacobson 1996
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755768
Germline
yes
3/27
-
-
-
DNA
PCR, DGGE, SSCA
blood
-
retinal disease
Family_1_II:1
PubMed: Jacobson 1996
Sister family_1_II:2, aunt of family_1_III:3
F
no
United States
-
-
-
-
-
1
Manon Peeters
+?/+
1
c.96dup
r.(?)
p.(Ile33Hisfs*12)
Paternal (inferred)
-
likely pathogenic (dominant)
g.42689977dup
g.42722239dup
1-bp insertion at codon 32
-
PRPH2_000289
-
PubMed: Jacobson 1996
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755768
Germline
yes
3/27
-
-
-
DNA
PCR, DGGE, SSCA
blood
-
retinal disease
Family_1_II:2
PubMed: Jacobson 1996
Brother of family_1_II:1, fathter of family_1_III:3
M
no
United States
-
-
-
-
-
1
Manon Peeters
+?/+
1
c.96dup
r.(?)
p.(Ile33Hisfs*12)
Paternal (confirmed)
-
likely pathogenic (dominant)
g.42689977dup
g.42722239dup
1-bp insertion at codon 32
-
PRPH2_000289
-
PubMed: Jacobson 1996
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755768
Germline
yes
3/27
-
-
-
DNA
PCR, DGGE, SSCA
blood
-
retinal disease
Family_1_III:3
PubMed: Jacobson 1996
Daughter of family_1_II:2, niece of family_1_II:1
F
no
United States
-
-
-
-
-
1
Manon Peeters
+/+
1
c.96dup
r.(?)
p.(Ile33Hisfs*12)
Unknown
-
pathogenic (dominant)
g.42689977dup
g.42722239dup
c.96dupC; p.Ile33Hisfs*12
-
PRPH2_000289
-
PubMed: Palma 2019
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755768
Germline
yes
1/3 cases
-
-
-
DNA
SEQ
blood
panel
retinal disease
Patient 2
PubMed: Palma 2019
index case
M
-
Brazil
Afro-American
-
-
-
-
1
Manon Peeters
+?/.
1
c.112G>T
r.(?)
p.(Gly38*)
Unknown
ACMG
likely pathogenic
g.42689961C>A
g.42722223C>A
-
-
PRPH2_000287
ACMG PVS1, PM2
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+?
1
c.112G>T
r.(?)
p.(Gly38*)
Unknown
-
likely pathogenic (dominant)
g.42689961C>A
g.42722223C>A
c.112G>T; p.G38*
-
PRPH2_000287
-
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
-
1/147
-
-
-
DNA
MIPsm, DHPLC, SEQ
blood
-
retinal disease
Patient 6 (ST0379)
PubMed: Peeters 2021
,
Journal: Peeters 2021
index case
F
-
France
white
-
-
-
-
1
Manon Peeters
+/.
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Unknown
ACMG
pathogenic
g.42689961del
g.42722223del
-
-
PRPH2_000288
ACMG PVS1, PM1, PM12,PP1
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Unknown
-
pathogenic (dominant)
g.42689961del
g.42722223del
c.113delG; p.Gly38Aspfs*4
-
PRPH2_000288
-
PubMed: Reeves 2020
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Unknown
-
1/187
-
-
-
DNA
PCR, SEQ, SEQ-NG-I
blood
-
retinal disease
52
PubMed: Reeves 2020
index case
F
-
United States
(white)
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Unknown
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at position 112
-
PRPH2_000288
-
PubMed: Moshfeghi 2006
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
2/3
-
-
-
DNA
SEQ
blood
-
retinal disease
Case2
PubMed: Moshfeghi 2006
index case, mother case 3
F
no
United States
white
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Maternal (inferred)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at position 112
-
PRPH2_000288
-
PubMed: Moshfeghi 2006
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
2/3
-
-
-
DNA
SEQ
blood
-
retinal disease
Case3
PubMed: Moshfeghi 2006
Daughter index case
F
no
United States
white
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Paternal (confirmed)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38.
-
PRPH2_000288
-
PubMed: Yang 2003
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
8/12
-
-
-
DNA
SEQ
blood
-
retinal disease
Fam_1_II:5
PubMed: Yang 2003
Brother fam_1_II:7 and fam_1_II:9, uncle fam_1_III:1 and fam_1_III:8
M
no
United States
-
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Paternal (confirmed)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38.
-
PRPH2_000288
-
PubMed: Yang 2003
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
8/12
-
-
-
DNA
SEQ
blood
-
retinal disease
Fam_1_II:7
PubMed: Yang 2003
Mother fam_1_III:8, sister fam_1_II:5 and fam_1_II:9, aunt fam_1_III:1
F
no
United States
-
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Paternal (confirmed)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38.
-
PRPH2_000288
-
PubMed: Yang 2003
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
8/12
-
-
-
DNA
SEQ
blood
-
retinal disease
Fam_1_II:9
PubMed: Yang 2003
Brother fam_1_II:5 and fam_1_II:7, uncle fam_1_III:1 and fam_1_III:8
M
no
United States
-
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Paternal (confirmed)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38.
-
PRPH2_000288
-
PubMed: Yang 2003
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
8/12
-
-
-
DNA
SEQ
blood
-
retinal disease
Fam_1_III:1
PubMed: Yang 2003
Cousin fam_1_III:8, father fam_1_IV:2, uncle fam_1_IV:3 and fam_1_IV:3
M
no
United States
-
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Maternal (confirmed)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38.
-
PRPH2_000288
-
PubMed: Yang 2003
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
8/12
-
-
-
DNA
SEQ
blood
-
retinal disease
Fam_1_III:8
PubMed: Yang 2003
Mother fam_1_IV:3 and fam_1_IV:4, niece of fam_1_III:1, aunt of fam_1_IV:2
F
no
United States
-
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Paternal (confirmed)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38.
-
PRPH2_000288
-
PubMed: Yang 2003
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
8/12
-
-
-
DNA
SEQ
blood
-
retinal disease
Fam_1_IV:2
PubMed: Yang 2003
Son fam_1_III:1, cousin fam_1_III:8/fam_1_IV:3/fam_1_IV:4
M
no
United States
-
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Maternal (confirmed)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38.
-
PRPH2_000288
-
PubMed: Yang 2003
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
8/12
-
-
-
DNA
SEQ
blood
-
retinal disease
Fam_1_IV:3
PubMed: Yang 2003
Son fam_1_III:8, brother fam_1_IV:4, cousin fam_1_III:1 and fam_1_IV:2
M
no
United States
-
-
-
-
-
1
Manon Peeters
+/+
1
c.113del
r.(?)
p.(Gly38Aspfs*4)
Maternal (confirmed)
-
pathogenic (dominant)
g.42689961del
g.42722223del
Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38.
-
PRPH2_000288
-
PubMed: Yang 2003
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
rs61755769
Germline
yes
8/12
-
-
-
DNA
SEQ
blood
-
retinal disease
Fam_1_IV:4
PubMed: Yang 2003
Daughter fam_1_III:8, sister fam_1_IV:3, niece fam_1_III:1 and fam_1_IV:2
F
no
United States
-
-
-
-
-
1
Manon Peeters
+/.
-
c.113del
r.(?)
p.(Gly38Aspfs*4)
Unknown
-
pathogenic
g.42689961del
g.42722223del
PRPH2 c.113del, p.Gly38AspfsTer4
-
PRPH2_000288
heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
-
retinal disease
001-437
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.116T>C
r.(?)
p.(Leu39Pro)
Unknown
ACMG
VUS
g.42689957A>G
g.42722219A>G
-
-
PRPH2_000286
ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/?
1
c.116T>C
r.(?)
p.(Leu39Pro)
Unknown
-
likely pathogenic (dominant)
g.42689957A>G
g.42722219A>G
p.PRPH2-L39P
-
PRPH2_000286
-
PubMed: Schorderet 2013
,
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
Germline
-
1/23
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
Patient 17
PubMed: Schorderet 2013
index case
-
-
Switzerland
white
-
-
-
-
1
Manon Peeters
+/.
1
c.116T>C
r.(?)
p.(Leu39Pro)
Unknown
-
pathogenic
g.42689957A>G
-
p.PRPH2-L39P
-
PRPH2_000286
-
PubMed: Schorderet-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQp
blood
targeted exon capture/IROme assay
retinal disease
-
PubMed: Schorderet-2013
-
-
-
Switzerland
Swiss, Algerian or Tunisian
-
-
-
-
1
LOVD
?/.
1
c.122T>C
r.(?)
p.(Leu41Pro)
Unknown
ACMG
VUS
g.42689951A>G
g.42722213A>G
-
-
PRPH2_000285
ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic
PubMed: Peeters 2021
,
Journal: Peeters 2021
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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