Full data view for gene PRPF31

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_015629.3 transcript reference sequence.

915 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA 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 1–5 - 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 1–14 - 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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