Full data view for gene PROM1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006017.2 transcript reference sequence.

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