Global Variome shared LOVD
PRPF31 (PRP31 pre-mRNA processing factor 31 homolog...)
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Global Variome, with Curator vacancy
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_015629.3 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
all entries containing 'Arg' or 'Ser'
!
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"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
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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915 entries on 10 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.(855+1_856-1)_(1374+1_1375-1)
r.spl
p.(?)
Unknown
-
likely pathogenic
g.?
g.?
NM_015629, exons9_13deletion,
-
NPHS1_000138
-
PubMed: Ezquerra-Inchausti 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
II:1
PubMed: Ezquerra-Inchausti 2018
Family RP40, II:1
?
no
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.(855+1_856-1)_(1374+1_1375-1)
r.spl
p.(?)
Maternal (confirmed)
-
likely pathogenic
g.?
g.?
NM_015629, exons9_13deletion,
-
NPHS1_000138
-
PubMed: Ezquerra-Inchausti 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
IV:1
PubMed: Ezquerra-Inchausti 2018
Family RP40, IV:1
?
no
Spain
-
-
-
-
-
1
LOVD
+?/.
_1_14_
c.-396_*287{0}
r.0?
p.0?
Unknown
-
likely pathogenic
g.(?_54618790)_(54635150_?)del
g.(?_54115410)_(54131719_?)del
del entire gene
-
PRPF31_000125
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
51
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
_1_14_
c.-396_*287{0}
r.0?
p.0?
Unknown
-
likely pathogenic
g.(?_54618790)_(54635150_?)del
g.(?_54115410)_(54131719_?)del
del entire gene
-
PRPF31_000125
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
52
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
_1_14_
c.-396_*287{0}
r.0?
p.0?
Unknown
-
likely pathogenic
g.(?_54618790)_(54635150_?)del
g.(?_54115410)_(54131719_?)del
del entire gene
-
PRPF31_000125
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
298
PubMed: Stone 2017
family, 2 affected
F
-
(United States)
-
-
-
-
-
2
LOVD
+/.
-
c.946-1G>?
r.spl
p.?
Parent #1
-
pathogenic (dominant)
g.54631447G>?
g.54128072G>?
c.946-1G>?
-
PRPF31_000144
-
PubMed: Daiger 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
VCH020
PubMed: Daiger 2014
-
-
-
United States
-
-
-
-
-
1
LOVD
+/.
_1_1i
c.-16646_-9+285del
r.0?
p.0?
Paternal (confirmed)
-
pathogenic (dominant)
g.54602540_54619462del
g.54099160_54116082del
-
-
PRPF31_000351
-
PubMed: Wen 2023
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
RP
MEP_243
PubMed: Wen 2023
2-generation family, 2 affected (daughter/father)
F
-
United States
-
-
-
-
-
2
Johan den Dunnen
+?/.
_1_3_
c.(?_-397)_(238+1_239-1)del
r.(?)
p.(?)
Unknown
ACMG
likely pathogenic
g.?
g.?
deletion of exons 1-3
-
NPHS1_000138
Heterozygous
PubMed: Birtel 2018
-
-
De novo
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
47
PubMed: Birtel 2018
-
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
_1_5_
c.(?_-397)_(420+1_421-1)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
deletion of exons 1-5
-
NPHS1_000138
Heterozygous
PubMed: Birtel 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
49
PubMed: Birtel 2018
-
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
_3_4_
c.(?_-397)_(420+1_421-1)del
r.(?)
p.(?)
Unknown
ACMG
likely pathogenic
g.?
g.?
deletion of exons 1-5,
-
NPHS1_000138
Heterozygous
PubMed: Birtel 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
53
PubMed: Birtel 2018
-
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-397)_(945+1_946-1)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.?
g.?
PRPF31, variant 1 :Deletion exon 1-10
-
NPHS1_000138
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
MLPA
blood
MLPA
retinal disease
988
PubMed: Weisschuh 2020
Filing key number: 453, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-397)_(945+1_946-1)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.?
g.?
PRPF31, variant 1 :Deletion exon 1-10
-
NPHS1_000138
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
989
PubMed: Weisschuh 2020
Filing key number: 453, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
_1_3_
c.(?_-396-1)_(238+1_239-1)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
PRPF31 19kb+ del exons 1-3, p.(?)
-
NPHS1_000138
-
PubMed: Xiao-2021
-
-
Unknown
yes
-
-
-
-
DNA
microsat, PCRq
blood
linkage analysis and qPCR
retinal disease
24
PubMed: Xiao-2021
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
1_5i
c.(?_-396-1)_(420+1_?)del
r.spl?
p.?
Unknown
-
pathogenic
g.54618789_54625974del
-
Deletion of exons 15
-
PRPF31_000183
-
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
F
no
-
white
-
-
-
-
1
LOVD
+/.
_1_14_
c.(?_-396-1)_(*287_?)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
PRPF31 18kb+ del exons 1-14, p.(?)
-
NPHS1_000138
-
PubMed: Xiao-2021
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG, PCRq
blood
gene panel testing and qualitative PCR
retinal disease
191469
PubMed: Xiao-2021
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
_1_14_
c.(?_-396-1)_(*287_?)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
PRPF31 18kb+ del exons 1-14, p.(?)
-
NPHS1_000138
-
PubMed: Xiao-2021
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG, PCRq
blood
gene panel testing and qualitative PCR
retinal disease
191489
PubMed: Xiao-2021
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
_1_14_
c.(?_-396-1)_(*287_?)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
PRPF31 18kb+ del exons 1-14, p.(?)
-
NPHS1_000138
-
PubMed: Xiao-2021
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG, MLPA
blood
gene panel testing and mutiplex ligation probe amplification
retinal disease
19647
PubMed: Xiao-2021
-
F
-
China
-
-
-
-
-
1
LOVD
+?/.
1_14
c.-396-1_*287+1del
r.spl?
p.?
Unknown
-
likely pathogenic (dominant)
g.54618789_54635151del
-
E1-14del
-
PRPF31_000156
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, MLPA
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
1_14
c.0
r.spl?
p.?
Unknown
-
pathogenic
g.54618789_54635151del
-
Deletion of exons 114
-
PRPF31_000156
-
PubMed: Eisenberger-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
F
no
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.-396_-131del
r.0?
p.(?)
Unknown
-
likely pathogenic
g.54610320_54619055del
g.54115410_54115675del
PRPF31 chr19:54610320_54619055del
-
PRPF31_000217
NDUFA3, TFPT, PRPF31 partial promoter deletion, range 13203-16857 bp in various techniques, heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
121-192
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-396_-131del
r.0?
p.(?)
Unknown
-
likely pathogenic
g.54610320_54619055del
g.54115410_54115675del
PRPF31 chr19:54610320_54619055del
-
PRPF31_000217
NDUFA3, TFPT, PRPF31 partial promoter deletion, range 14117-15168 bp in various techniques, heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI735_001452
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+/.
1_11
c.(?_-396)_(1146+1_1147-1)del
r.?
p.?
Unknown
-
pathogenic (!)
g.(?_54618790)_(54631753_54632431)del
-
59 kb genomic deletion including the PRPF31
-
PRPF31_000274
novel genomic deletion including almost the entire PRPF31 linked to 19q13.42 (breakpoints in intron 11 of the PRPF31 gene and in LOC441864 (ref|NT_011109.15|Hs19_11266)); variant shows an inheritance pattern with incomplete penetrance
PubMed: Golovleva-2010
,
PubMed: Köhn 2009
-
-
Germline
yes
0/20 simplex RP cases or 0/94 healthy controls
-
-
-
DNA
PCR, RFLP
blood
-
Healthy/Control
VII:8
PubMed: Golovleva-2010
,
PubMed: Köhn 2009
asymptomatic gene carrier with one affected parent and offspring
F
-
Sweden
-
-
-
-
-
1
LOVD
+/.
1_11
c.(?_-396)_(1146+1_1147-1)del
r.?
p.?
Unknown
-
pathogenic (!)
g.(?_54618790)_(54631753_54632431)del
-
59 kb genomic deletion including the PRPF31
-
PRPF31_000274
novel genomic deletion including almost the entire PRPF31 linked to 19q13.42 (breakpoints in intron 11 of the PRPF31 gene and in LOC441864 (ref|NT_011109.15|Hs19_11266)); variant shows an inheritance pattern with incomplete penetrance
PubMed: Golovleva-2010
,
PubMed: Köhn 2009
-
-
Germline
yes
0/20 simplex RP cases or 0/94 healthy controls
-
-
-
DNA
PCR, RFLP
blood
-
Healthy/Control
VII:15
PubMed: Golovleva-2010
,
PubMed: Köhn 2009
asymptomatic gene carrier with one affected parent and offspring
M
-
Sweden
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-396)_(1146+1_1147-1)del
r.?
p.?
Unknown
-
likely pathogenic
g.?
-
59 kb genomic deletion (intron 11 of the PRPF31 gene and in LOC441864)
-
NPHS1_000138
-
PubMed: Ko?hn 2009
-
-
Germline
yes
-
-
-
-
DNA
PCRlr, MLPA
-
-
retinal disease
family 078
PubMed: Ko?hn 2009
-
-
-
Sweden
Swedish
-
-
-
-
12
LOVD
+?/.
-
c.(?_-396)_(1146+1_1147-1)del
r.?
p.?
Unknown
-
likely pathogenic
g.?
-
59 kb genomic deletion (intron 11 of the PRPF31 gene and in LOC441864)
-
NPHS1_000138
-
PubMed: Ko?hn 2009
-
-
Germline
yes
-
-
-
-
DNA
PCRlr, MLPA
-
-
retinal disease
family 008
PubMed: Ko?hn 2009
-
-
-
Sweden
Swedish
-
-
-
-
7
LOVD
+/.
-
c.(?_-396)_(1148-9_?)del
r.?
p.?
Unknown
-
pathogenic
g.?
-
~30kb deletion
-
NPHS1_000138
-
PubMed: Abu Safieh 2006
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
IV.2
PubMed: Abu Safieh 2006
chronic asthma or chronic bronchitis
F
-
United Kingdom (Great Britain)
British
-
-
-
-
1
LOVD
+/.
-
c.(?_-396)_(1148-9_?)del
r.?
p.?
Unknown
-
pathogenic
g.?
-
~30kb deletion
-
NPHS1_000138
-
PubMed: Abu Safieh 2006
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
IV.1
PubMed: Abu Safieh 2006
facial dysmorphia with telecanthus
M
-
United Kingdom (Great Britain)
British
-
-
-
-
1
LOVD
+/.
-
c.(?_-396)_(1148-9_?)del
r.?
p.?
Unknown
-
pathogenic
g.?
-
~30kb deletion
-
NPHS1_000138
-
PubMed: Abu Safieh 2006
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
III.3
PubMed: Abu Safieh 2006
-
F
-
United Kingdom (Great Britain)
British
-
-
-
-
1
LOVD
+/.
-
c.(?_-396)_(1148-9_?)del
r.?
p.?
Unknown
-
pathogenic
g.?
-
~30kb deletion
-
NPHS1_000138
-
PubMed: Abu Safieh 2006
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
III.9
PubMed: Abu Safieh 2006
-
F
-
United Kingdom (Great Britain)
British
-
-
-
-
1
LOVD
+?/.
1
c.-358_-131del
r.spl
p.(?)
Unknown
-
likely pathogenic
g.54618828_54619055del
g.54115448_54115675del
-
-
PRPF31_000158
-
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
DNA
MLPA
-
+arrayCGH
retinal disease
RP-2426
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+/.
1
c.-358_-131del
r.(?)
p.?
Maternal (inferred)
-
pathogenic (dominant)
g.54618828_54619055del
g.54115448_54115675del
PRPF31 del chr19:54618828-54619055, deletion of PRPF31 (E1)
-
PRPF31_000158
heterozygous
PubMed: Martin-Merida 2017
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG, MLPA
blood
MLPA
retinal disease
RP-2426_III:1
PubMed: Martin-Merida 2017
family RP-2426, individual III:1, proband
M
-
Spain
Spanish
-
-
-
-
1
LOVD
?/.
-
c.-349del
r.?
p.?
Maternal (confirmed)
ACMG
VUS
g.54618837del
g.54115457del
-
-
PRPF31_000332
ACMG PM2
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
SRP-391
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.-339delC
r.(?)
p.(=)
Parent #1
-
pathogenic (dominant)
g.54618847del
g.54115467del
54618847delC
-
PRPF31_000126
not in 192 controls
PubMed: Coussa 2015
-
-
Germline
-
1/60 cases
-
-
-
DNA
SEQ
-
gene panel
retinal disease
-
PubMed: Coussa 2015
index patient
-
-
Canada
French-Canadian
-
-
-
-
1
LOVD
+?/.
-
c.-118_-9+39delins640
r.(?)
p.?
Unknown
-
likely pathogenic (dominant)
g.54619068_54619216delins640
g.54115688_54115836delins640
PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted
-
PRPF31_000284
heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200
PubMed: Kiser 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
retinal dystrophy panel of 176 genes
retinal disease
22
PubMed: Kiser 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.-118_-9+39delins641
r.(?)
p.?
Unknown
-
likely pathogenic (dominant)
g.54619068_54619216delins641
g.54115688_54115836delins641
PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted
-
PRPF31_000285
heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200
PubMed: Kiser 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
retinal dystrophy panel of 176 genes
retinal disease
23
PubMed: Kiser 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.-118_-9+39delins642
r.(?)
p.?
Unknown
-
likely pathogenic (dominant)
g.54619068_54619216delins642
g.54115688_54115836delins642
PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted
-
PRPF31_000286
heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200
PubMed: Kiser 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
retinal dystrophy panel of 176 genes
retinal disease
24
PubMed: Kiser 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.-118_-9+39delins643
r.(?)
p.?
Unknown
-
likely pathogenic (dominant)
g.54619068_54619216delins643
g.54115688_54115836delins643
PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted
-
PRPF31_000287
heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200
PubMed: Kiser 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
retinal dystrophy panel of 176 genes
retinal disease
25
PubMed: Kiser 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.-118_-9+39delins644
r.(?)
p.?
Unknown
-
likely pathogenic (dominant)
g.54619068_54619216delins644
g.54115688_54115836delins644
PRPF31 exon 1 indel: 149 bp deleted/640 bp inserted
-
PRPF31_000288
heterozygous; insertion of 640 nucleotides from OSCAR gene in reverse complement, hg 17: 59,292,594–59,291,955 (Sullivan et al., 200
PubMed: Kiser 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
retinal dystrophy panel of 176 genes
retinal disease
26
PubMed: Kiser 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.-53_-9del
r.?
p.0?
Unknown
ACMG
pathogenic
g.54113356-54116922del
-
c.-53_-9del
-
PRPF31_000066
-
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
2 IRD families
-
-
Israel
-
-
-
-
-
2
Global Variome, with Curator vacancy
+/.
_1_13i
c.(?_-52)_(1375-490_?)del
r.0?
p.0?
Parent #1
-
pathogenic (dominant)
g.(?_54619134)_(54634248_?)del
-
-
-
PRPF31_000129
-
PubMed: Almoguera 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
RP-0777
PubMed: Almoguera 2015
family, 2 affected
-
-
Spain
-
-
-
-
-
2
LOVD
-/.
1
c.-39+14A>G
r.spl?
p.?
Unknown
-
benign (dominant)
g.54619161A>G
-
c.-39+14A>G
-
PRPF31_000206
-
PubMed: Anasagasti-2013
-
rs4806711
Germline
yes
0.21
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
-/.
1
c.-39+14A>G
r.(=)
p.(=)
Both (homozygous)
-
benign (dominant)
g.54619161A>G
-
c.-39+14A>G
-
PRPF31_000206
-
PubMed: Anasagasti-2013
-
rs4806711
Germline
yes
0.21
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.-23G>T
r.(=)
p.(=)
Unknown
-
VUS
g.54619163G>T
-
g.54619163G>T
-
PRPF31_000354
-
PubMed: Anasagasti-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.-9+1G>A
r.spl
p.?
Unknown
-
pathogenic
g.54619178G>A
g.54115798G>A
-
-
PRPF31_000030
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
Peripheral blood
-
retinal disease
-
-
-
F
-
-
-
-
-
-
-
1
Marta de Castro-Miró
+?/.
1i
c.-9+1G>T
r.spl?
p.?
Unknown
-
likely pathogenic
g.54619178G>T
-
IVS1+1G>T (isoform 1)
-
PRPF31_000295
0/200 controls and 0/18 unaffected family members
PubMed: Liu 2008
-
-
Germline
yes
-
-
-
-
DNA, RNA
SEQ, RT-PCR
-
-
retinal disease
P
PubMed: Liu 2008
-
-
-
China
Chinese
-
-
-
-
7
LOVD
+?/.
1i
c.-9+1G>T
r.spl?
p.?
Unknown
-
likely pathogenic
g.54619178G>T
-
IVS1+1G>T (isoform 2)
-
PRPF31_000295
0/200 controls and 0/18 unaffected family members
PubMed: Liu 2008
-
-
Germline
yes
-
-
-
-
DNA, RNA
SEQ, RT-PCR
-
-
Healthy/Control
C
PubMed: Liu 2008
asymptomatic carrier
-
-
China
Chinese
-
-
-
-
3
LOVD
-?/.
-
c.-9+3G>A
r.spl?
p.?
Unknown
-
likely benign
g.54619180G>A
-
PRPF31(NM_015629.3):c.-9+3G>A
-
PRPF31_000082
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1i_4
c.-9+906_247del
r.?
p.?
Unknown
ACMG
pathogenic (dominant)
g.54620083_54625247del
g.54116703_54121868del
-
-
PRPF31_000329
-
PubMed: De Bruijn 2023
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
Published as WGS
RP
DNA17-05683
PubMed: de Bruijn 2023
-
-
-
-
-
-
-
-
-
1
Suzanne de Bruijn
+/.
1i_5i
c.-8-133_421-27dup
r.?
p.?
Parent #1
ACMG
pathogenic
g.54621518_54626806dup
g.54118138_54123427dup
dup ex2-5
-
PRPF31_000006
2 different variants segregating in family
PubMed: de Castro-Miró 2016
-
-
Germline
yes
7/9 patients in family
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
E4
PubMed: de Castro-Miró 2016
6-generation family, 11 affecteds (7F, 4M), unaffected heterozygous carrier parents; 2 different variants segregating in family
F;M
-
-
-
-
-
-
-
11
Marta de Castro-Miró
+?/.
_2_5_
c.-8-45_421-88dup
r.spl
p.(?)
Unknown
-
likely pathogenic
g.54621606_54626745dup
g.54118226_54123366dup
-
-
PRPF31_000159
-
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
DNA
MLPA
-
+arrayCGH
retinal disease
RP-0932
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+/.
_2_5_
c.-8-45_421-88dup
r.(?)
p.?
Paternal (inferred)
-
pathogenic (dominant)
g.54621606_54626745dup
g.54118226_54123366dup
PRPF31 dup chr19:54621606-54626745, duplication of PRPF31 (E2 to E5
-
PRPF31_000159
heterozygous
PubMed: Martin-Merida 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
RP-0932_III:1
PubMed: Martin-Merida 2017
family RP-0932, individual III:1, proband's father
F
-
Spain
Spanish
-
-
-
-
1
LOVD
+/.
_2_5_
c.-8-45_421-88dup
r.(?)
p.?
Paternal (confirmed)
-
pathogenic (dominant)
g.54621606_54626745dup
g.54118226_54123366dup
PRPF31 dup chr19:54621606-54626745, duplication of PRPF31 (E2 to E5
-
PRPF31_000159
heterozygous
PubMed: Martin-Merida 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, MLPA
blood
MLPA
retinal disease
RP-0932_IV:1
PubMed: Martin-Merida 2017
family RP-0932, individual IV:1, proband
M
-
Spain
Spanish
-
-
-
-
1
LOVD
+?/.
-
c.(-9+1_-8-1)_(177+1_178-1)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.?
g.?
PRPF31, variant 1 :Deletion exon 2-3
-
NPHS1_000138
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET7 targeted sequencing panel - see paper
retinal disease
932
PubMed: Weisschuh 2020
Filing key number: 405, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
_2_3_
c.(-9+1_-8-1)_(238+1_239-1)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
PRPF31 452bp+ del exons 2-3, p.(?)
-
NPHS1_000138
-
PubMed: Xiao-2021
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG, PCRq
blood
gene panel testing and qualitative PCR
retinal disease
191443
PubMed: Xiao-2021
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
_2_3
c.(-9+1_-8-1)_(238+1_239-1)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
PRPF31 452bp+ del exons 2-3, p.(?)
-
NPHS1_000138
-
PubMed: Xiao-2021
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG, MLPA
blood
gene panel testing and mutiplex ligation probe amplification
retinal disease
19719
PubMed: Xiao-2021
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
1i_3i
c.-8-1_238+1del
r.spl?
p.?
Unknown
-
likely pathogenic (dominant)
g.54621650_54622014del
-
E2-3del
-
PRPF31_000259
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, MLPA
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
1i_3i
c.-8-1_238+1del
r.spl?
p.?
Unknown
-
pathogenic (dominant)
g.54621650_54622014del
-
Gross deletion including exon 2 and 3***
-
PRPF31_000259
-
PubMed: Numa-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
retinal disease
-
PubMed: Numa 2020
-
F
-
Japan
Japanese
-
-
-
-
1
LOVD
+/.
_2_8_
c.(-9+1_-8-1)_(855+1_856-1)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
PRPF31 7.5kb+ del exons 2-8, p.(?)
-
NPHS1_000138
-
PubMed: Xiao-2021
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG, MLPA
blood
gene panel testing and mutiplex ligation probe amplification
retinal disease
19843
PubMed: Xiao-2021
-
F
-
China
-
-
-
-
-
1
LOVD
+?/.
1i_13i
c.-8-1_1374+1del
r.spl?
p.?
Unknown
-
likely pathogenic (dominant)
g.54621650_54632746del
-
E2-13del
-
PRPF31_000260
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, MLPA
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
1i_14
c.-8-1_*287+1del
r.spl?
p.?
Unknown
-
likely pathogenic (dominant)
g.54621650_54635151del
-
E2-14del
-
PRPF31_000261
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, MLPA
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.-3_7del
r.?
p.?
Unknown
-
likely pathogenic
g.54621656_54621665del
-
c.-3_7del
-
PRPF31_000184
-
PubMed: Sullivan-2013
-
-
Unknown
-
-
-
-
-
DNA
SEQ, PCR
blood
-
retinal disease
-
PubMed: Sullivan-2013
-
-
no
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-3_7del
r.(?)
p.?
Unknown
-
likely pathogenic (dominant)
g.54621656_54621665del
g.54118276_54118285del
PRPF31 c.-3_7del
-
PRPF31_000184
heterozygous
PubMed: Kiser 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
retinal dystrophy panel of 176 genes
retinal disease
13
PubMed: Kiser 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.-3_7del
r.(?)
p.?
Unknown
-
likely pathogenic (dominant)
g.54621656_54621665del
g.54118276_54118285del
PRPF31 c.-3_7del
-
PRPF31_000184
heterozygous
PubMed: Kiser 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
retinal dystrophy panel of 176 genes
retinal disease
14
PubMed: Kiser 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.-3_7del
r.(?)
p.?
Unknown
-
likely pathogenic (dominant)
g.54621656_54621665del
g.54118276_54118285del
PRPF31 c.-3_7del
-
PRPF31_000184
heterozygous
PubMed: Kiser 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
retinal dystrophy panel of 176 genes
retinal disease
15
PubMed: Kiser 2019
-
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-1)_(238+1_239-1)del
r.(?)
p.(?)
Unknown
ACMG
likely pathogenic
g.?
g.?
PRPF31 c.(?_-1) _(238+1_239-1)del, IMPDH1 c.(?_-1) _(*1_?)del
-
NPHS1_000138
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
194
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-1)_(*1_?)del
r.(?)
p.(?)
Unknown
ACMG
likely pathogenic
g.?
g.?
PRPF31 c.(?_-1) _(*1_?)del
-
NPHS1_000138
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
183
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+/.
-
c.(?_-1)_(*1_?)del
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.?
g.?
PRPF31 c.(?_-1) _(*1_?)del
-
NPHS1_000138
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
189
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
_1
-
r.(?)
p.(?)
Unknown
-
likely pathogenic
g.54606209_54614642del
g.54102829_54111262del
chr19:54606209_54614642del (c.-12977_-4544del)
-
PRPF31_000343
given range does not contain PRPF31
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI2828_004413
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
?/.
1i_8i
c.(-9+1_-8-1)_(855+1_856-1){2}
r.?
p.?
Both (homozygous)
-
VUS
g.(54619178_54621650)_(54628036_54629902)dup
-
chr19:54621654–54628040dup
-
PRPF31_000231
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
14017670
PubMed: Ellingsford 2018
2-generation family, 1 affected, unaffected heterozygous carrier father
M
yes
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
1i_5i
c.(-9+1_-8-1)_(c.420+1_421-1)del
r.spl?
p.?
Parent #1
ACMG
pathogenic
g.(54619178_54621650)_(54625974_54626832)del
-
del ex 2-5
-
PRPF31_000007
2 different variants seggregating in family
PubMed: de Castro-Miró 2016
-
-
Germline
yes
2/9 patients in family
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
E4
PubMed: de Castro-Miró 2016
6-generation family, 11 affecteds (7F, 4M), unaffected heterozygous carrier parents; 2 different variants segregating in family
F;M
-
-
-
-
-
-
-
11
Marta de Castro-Miró
+?/.
14_14_
c.*19_*287{0}
r.?
p.?
Unknown
-
likely pathogenic
g.54634882_54637087del
g.54131451_54133656del
chr19:54634882_54637087del
-
PRPF31_000344
-
PubMed: Zampaglione 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI2921_004506
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
_1_14
c.-396_(*19_?){0}
r.0
p.0
Unknown
-
likely pathogenic
g.(?_54604319)_(54634882_?)del
g.(?_54100939)_(54131451_?)del
chr19:54604319_54634882del
-
PRPF31_000346
OSCAR, NDUFA3, TFPT, PRPF31
PubMed: Zampaglione 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI633_001296
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
_1_14_
c.-396_*287{0}
r.0
p.0
Unknown
-
likely pathogenic
g.54600232_54637087del
g.54096852_54133656del
chr19:54600232_54637087del
-
PRPF31_000125
deletion incl. OSCAR, NDUFA3, TFPT, PRPF31
PubMed: Zampaglione 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
001-028
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
_1_14_
c.-396_*287{0}
r.0
p.0
Unknown
-
likely pathogenic
g.54600232_54637087del
g.54096852_54133656del
chr19:54600232_54637087del
-
PRPF31_000125
deletion incl. OSCAR, NDUFA3, TFPT, PRPF31
PubMed: Zampaglione 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI1330_002488
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+/.
_1_14_
c.-396_*287{0}
r.0
p.0
Unknown
-
pathogenic (dominant)
g.54609771_54636572del
g.54106454_54133135del
-
-
PRPF31_000328
-
PubMed: Fadaie 2021
,
PubMed: De Bruijn 2023
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
Published as WGS
RP
Pat23;070261
PubMed: Fadaie 2021
,
PubMed: de Bruijn 2023
family, 5 affected
-
-
Ireland
-
-
-
-
-
5
Suzanne de Bruijn
+/.
_1_3i
c.-396_239-98{0}
r.0?
p.0?
Unknown
-
pathogenic (dominant)
g.54618460_54625141del
g.54115080_54121762del
-726_239-98del
-
PRPF31_000331
-
PubMed: de Bruijn 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
RP
DNA09-05083
PubMed: de Bruijn 2023
family, 5 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
_1_8
c.-396_735{0}
r.0?
p.0?
Unknown
-
likely pathogenic
g.54600232_54627915del
g.54096852_54124536del
chr19:54600232_54627915del
-
PRPF31_000345
OSCAR, NDUFA3, TFPT, PRPF31
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
001-422
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
_1_14_
c.0
r.0
p.0
Unknown
-
likely pathogenic
g.54602946_54635178del
g.54099655_54131887del
-
-
PRPF31_000156
deletion encompassing OSCAR (exon 1-2), NDUFA3, TFPT, PRPF31
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
DNA
SEQ-NG
-
+arrayCGH
retinal disease
RP-0777
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
_1_14_
c.0
r.0
p.0
Unknown
-
likely pathogenic
g.54602946_54632693del
g.54099655_54129402del
-
-
PRPF31_000156
deletion encompassing OSCAR (exon 1-2), NDUFA3, TFPT, PRPF31
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
DNA
MLPA
-
+arrayCGH
retinal disease
RP-0932
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
_1_10_
c.0
r.0
p.0
Parent #1
-
likely pathogenic (dominant)
g.54577171_54630008del
g.54073923_54126760del
chr19:54577171_54630008del
-
PRPF31_000156
Heterozygous
PubMed: Cho 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
after negative whole exome sequencing, GeneDx Retinal dystrophy Xpanded gene panel (880 genes)
retinal disease
22
PubMed: Cho 2020
-
M
-
(United States)
-
-
-
-
-
1
LOVD
+/.
-
c.0?
r.0?
p.0?
Maternal (inferred)
-
pathogenic (dominant)
g.?
g.?
PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion
-
NPHS1_000138
heterozygous; breakpoints sequenced, but no precise locus described
PubMed: Dong 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, PCRq, PCRlr, SEQ
blood
-
retinal disease
RP24 _III-1
PubMed: Dong 2013
family RP24 , individual III-1
F
-
China
Chinese
-
-
-
-
1
LOVD
+/.
-
c.0?
r.0?
p.0?
Maternal (confirmed)
-
pathogenic (dominant)
g.?
g.?
PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion
-
NPHS1_000138
heterozygous; breakpoints sequenced, but no precise locus described
PubMed: Dong 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, PCRq, PCRlr, SEQ
blood
-
retinal disease
RP24 _IV-2
PubMed: Dong 2013
family RP24 , individual IV-2
F
-
China
Chinese
-
-
-
-
1
LOVD
+/.
-
c.0?
r.0?
p.0?
Maternal (inferred)
-
pathogenic (dominant)
g.?
g.?
PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion
-
NPHS1_000138
heterozygous; breakpoints sequenced, but no precise locus described
PubMed: Dong 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, PCRq, PCRlr, SEQ
blood
-
retinal disease
RP24 _III-3
PubMed: Dong 2013
family RP24 , individual III-3
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
-
c.0?
r.0?
p.0?
Paternal (confirmed)
-
pathogenic (dominant)
g.?
g.?
PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion
-
NPHS1_000138
heterozygous; breakpoints sequenced, but no precise locus described
PubMed: Dong 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, PCRq, PCRlr, SEQ
blood
-
retinal disease
RP24 _IV-4
PubMed: Dong 2013
family RP24 , individual IV-4
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
-
c.0?
r.0?
p.0?
Paternal (confirmed)
-
pathogenic (dominant)
g.?
g.?
PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion
-
NPHS1_000138
heterozygous; breakpoints sequenced, but no precise locus described
PubMed: Dong 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, PCRq, PCRlr, SEQ
blood
-
retinal disease
RP24 _IV-5
PubMed: Dong 2013
family RP24 , individual IV-5
F
-
China
Chinese
-
-
-
-
1
LOVD
+/.
-
c.0?
r.0?
p.0?
Maternal (inferred)
-
pathogenic (dominant)
g.?
g.?
PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion
-
NPHS1_000138
heterozygous; breakpoints sequenced, but no precise locus described
PubMed: Dong 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, PCRq, PCRlr, SEQ
blood
-
retinal disease
RP24 _III-5
PubMed: Dong 2013
family RP24 , individual III-5
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
-
c.0?
r.0?
p.0?
Paternal (confirmed)
-
pathogenic (dominant)
g.?
g.?
PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion
-
NPHS1_000138
heterozygous; breakpoints sequenced, but no precise locus described
PubMed: Dong 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, PCRq, PCRlr, SEQ
blood
-
retinal disease
RP24 _IV-6
PubMed: Dong 2013
family RP24 , individual IV-6
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
-
c.0?
r.0?
p.0?
Maternal (inferred)
-
pathogenic (dominant)
g.?
g.?
PRPF31 deletion from the beginning of the gene to the benginning of reversely oriented OSCAR gene (the estimated size of a wild-type allele is 19,825 bp along with ~220 bp insertion
-
NPHS1_000138
heterozygous; breakpoints sequenced, but no precise locus described
PubMed: Dong 2013
-
-
Germline
yes
-
-
-
-
DNA
STR, PCRq, PCRlr, SEQ
blood
-
retinal disease
RP24 _III-6
PubMed: Dong 2013
family RP24 , individual III-6 (III:7 on the pedigree)
F
-
China
Chinese
-
-
-
-
1
LOVD
+?/.
4i_14_
c.322+115_*287{0}
r.?
p.?
Unknown
-
likely pathogenic
g.54625437_54637087del
g.54122058_54133656del
hr19:54625437-54637087
-
PRPF31_000342
-
PubMed: Zampaglione 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
039-151
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Parent #1
-
likely pathogenic (dominant)
g.?
-
del ex4-13
-
NPHS1_000138
-
PubMed: Weisschuh 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
ADRP32
PubMed: Weisschuh 2016
family
-
-
Germany
-
-
-
-
-
1
LOVD
+?/.
10i
c.?
r.?
p.?
Unknown
-
likely pathogenic (dominant)
g.?
-
1081+19del17bp
-
NPHS1_000138
not in 100 controls
PubMed: Yang 2015
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
gene panel
retinal disease
RP173
PubMed: Yang 2015
family
M
-
China
Han
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Parent #1
-
pathogenic (dominant)
g.?
-
c.946-1G>C
-
NPHS1_000138
-
PubMed: Daiger 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
UTAD037
PubMed: Daiger 2014
-
-
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Parent #1
-
pathogenic (dominant)
g.?
-
PRPF31 Gly272Va
-
NPHS1_000138
-
PubMed: Daiger 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
UTAD388
PubMed: Daiger 2014
-
-
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
NA
g.?
-
p.R293
-
NPHS1_000138
-
PubMed: Tanackovic 2011
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
NA
g.?
-
p.R372
-
NPHS1_000138
-
PubMed: Tanackovic 2011
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
p.Thr494Met
-
NPHS1_000138
-
PubMed: Blanco-Kelly-2012
-
-
Unknown
yes
-
-
-
-
DNA
arraySNP
blood
adRP genotyping microarray
retinal disease
-
PubMed: Blanco-Kelly-2012
-
-
-
Spain
spanish
-
-
-
-
3
LOVD
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
p.PRPF31-E183_ins33bp
-
NPHS1_000138
-
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
+?/.
-
c.?
r.(?)
p.(?)
Unknown
-
likely pathogenic
g.?
g.?
whole gene heterozygous deletion detected by comparative genomic hybridization
-
NPHS1_000138
-
PubMed: Hariri 2018
-
-
Germline
?
-
-
-
-
DNA
arrayCGH
-
retrospective analysis
retinal disease
-
PubMed: Hariri 2018
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
_1_
c.?
r.spl
p.(?)
Both (homozygous)
-
likely pathogenic
g.68679654G>A
g.68645751G>A
c.160+1G>A
-
PRPF31_000214
Heterozygous deletion in PRPF31 exon 1 and 5′ (putative promoter) regi
PubMed: Shakhmantsir 2020
-
-
Germline
?
-
-
-
-
DNA
?
-
cell line experiment
retinal disease
JB878 (RP2)
PubMed: Shakhmantsir 2020
-
M
-
Brazil
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Parent #1
-
likely pathogenic
g.?
g.?
PRPF31, variant 1 :Deletion entire gene
-
NPHS1_000138
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
1267
PubMed: Weisschuh 2020
Filing key number: 1078, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
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