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.

61 entries on 1 page. Showing entries 1 - 61.
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AscendingDNA change (cDNA)     

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ID_report     

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+/. 12 c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - pathogenic g.16008266dup g.16006643dup 1354_1355insT - PROM1_000004 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/+ 12 c.1354dup r.(?) p.(Tyr452Leufs*12) Both (homozygous) - pathogenic g.16008266dup g.16006643dup c.1349insT - PROM1_000004 deleterious variant PubMed: Pras 2009 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Pras 2009 - - - - Arabic - - - - 3 Pascal Escher
+/. - c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - pathogenic g.16008266dup g.16006643dup - - PROM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) - pathogenic g.16008260dup - - - PROM1_000004 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Arab-Muslim - - - - 2 Dror Sharon
+/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Parent #2 - pathogenic (recessive) g.16008266dup g.16006643dup 1327dupT - PROM1_000004 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat02 PubMed: Lionel 2018 - M - Canada - - - - - 1 Johan den Dunnen
+?/. 12 c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) - likely pathogenic (recessive) g.16008261dup g.16006638dup - - PROM1_000004 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC01196 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. 12 c.1354dup r.(?) p.(Tyr452Leufs*13) Parent #1 - likely pathogenic (recessive) g.16008261dup g.16006638dup - - PROM1_000004 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC07188 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown ACMG pathogenic g.16008261dup - - - PROM1_000004 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 13 c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) - pathogenic (recessive) g.16008266dup g.16006643dup - - PROM1_000004 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat108 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 12 c.1354dup r.(?) p.(Tyr452Leufs*13) Parent #2 - pathogenic (recessive) g.16008266dup g.16006643dup - - PROM1_000004 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat106 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452LeufsTer13) Parent #2 - likely pathogenic g.16008266dup g.16006643dup 1354_1355insT - PROM1_000004 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/09 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup 1354dupT - PROM1_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12009616 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup 1354dupT - PROM1_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13002979 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup 1354dupT - PROM1_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 88301 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup 1354dupT - PROM1_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 75849 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1355A>TA; p.Y452YX - PROM1_000004 uncertain annotation PubMed: Kersten 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Whole-exome sequencing retinal disease ? PubMed: Kersten 2018 - F - - - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) - likely pathogenic g.16008266dup g.16006643dup - - PROM1_000004 - PubMed: Perez-Carro 2018 - - Germline yes - - - - DNA arraySNP blood - retinal disease RP-1899 PubMed: Perez-Carro 2018 family RP-1899 M no Spain - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown ACMG likely pathogenic g.16008266dup g.16006643dup EYS c.7412-1G>C, p.(?), c.2023+5G>T, p.(?),, pROM1 c.1354dup, p.(Tyr452*) - PROM1_000004 error in annotation: p.(Tyr452*) instead of p.(Tyr452Leufs*13) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 114 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 unsolved, single heterozygous variant in autosomal recessive disease 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-0289 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 solved, homozygous 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-0383_III:2 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 solved, homozygous 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-0682_III:1 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 solved, homozygous 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-0803_III:2 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 solved, compound 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-0838_III:2 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 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-0855_III:2 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 solved, compound 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 RP-1110_III:7 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 unsolved, single heterozygous variant in autosomal recessive disease 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-1243 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 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-1899_III:4 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 solved, homozygous 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-2752_III:1 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 unsolved, single heterozygous variant in autosomal recessive disease 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-2831 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown - likely pathogenic g.16008266dup g.16006643dup c.1354dup, p.Tyr452Leufs*13 - PROM1_000004 solved, homozygous 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-2924_III:3 PubMed: Del Pozo-Valero individual ID family_patient or only family number for probands with unknown pedigree ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup PROM1 Ex.12 c.1354dup p.(Tyr452Leufs13*), Ex.12 c.1354dup p.(Tyr452Leufs13*), USH2A : Ex.13 c.2276G>T p.(Cys759Phe) - PROM1_000004 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1899 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 12 c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) - likely pathogenic g.16008266dup g.16006643dup PROM1 Ex.12 c.1354dup p.(Tyr452Leufs13*), Ex.12 c.1354dup p.(Tyr452Leufs13*) - PROM1_000004 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA arraySNP - - retinal disease RP-2924 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) - likely pathogenic g.16008266dup g.16006643dup PROM1;NM_006017.2;c.[1354dup];[1354dup];p.[(Tyr452Leufs*13)];[(Tyr452Leufs*13)] - PROM1_000004 homozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 66 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) ACMG pathogenic g.16008266dup g.16006643dup PROM1:NM_006017 c.1354dupT, p.T452Lfs*13 - PROM1_000004 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RP-543 PubMed: Rodriguez-Munoz 2020 family fRPN-BT, proband F - Spain - - - - - 1 LOVD
+/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) ACMG pathogenic g.16008266dup g.16006643dup PROM1:NM_006017 c.1354dupT, p.T452Lfs*13 - PROM1_000004 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RP-545 PubMed: Rodriguez-Munoz 2020 family fRPN-BT, family member M - Spain - - - - - 1 LOVD
+/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) ACMG pathogenic g.16008266dup g.16006643dup PROM1:NM_006017 c.1354dupT, p.T452Lfs*13 - PROM1_000004 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RP-547 PubMed: Rodriguez-Munoz 2020 family fRPN-BT, family member M - Spain - - - - - 1 LOVD
+/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown ACMG pathogenic g.16008266dup g.16006643dup PROM1:NM_006017 c.1354dupT, p.T452Lfs*13 - PROM1_000004 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-319 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Parent #1 - likely pathogenic g.16008266dup g.16006643dup PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.1354dup/p.Y452Lfs*13 - PROM1_000004 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 640 PubMed: Weisschuh 2020 Filing key number: 228, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Parent #1 - likely pathogenic g.16008266dup g.16006643dup PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.2414dup/p.L805Ffs*13 - PROM1_000004 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 1048 PubMed: Weisschuh 2020 Filing key number: 622, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Parent #1 - likely pathogenic g.16008266dup g.16006643dup PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.642T>A/p.Y214* - PROM1_000004 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 1052 PubMed: Weisschuh 2020 Filing key number: 641, cone-rod dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Parent #1 - likely pathogenic g.16008266dup g.16006643dup PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.1354dup/p.Y452Lfs*13 - PROM1_000004 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 1125 PubMed: Weisschuh 2020 Filing key number: 768, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - pathogenic g.16008266dup g.16006643dup PROM1 c.1354dupT, p.Tyr452LeufsTer13 - PROM1_000004 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000188 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 4,12 c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup PROM1 c.436C>T c.1354dup, p.Arg146* p.Tyr452Leufs*13 - PROM1_000004 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 143 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Both (homozygous) - VUS g.16008266dup g.16006643dup PROM1 nucleotide 1, protein 1:c.1354dupT, p.Tyr452Leufs*13 - PROM1_000004 homozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 62 PubMed: Hull 2020 - ? - New Zealand Maori - - - - 1 LOVD
?/. - c.1354dup r.(?) p.(Tyr452Leufs*13) Unknown - VUS g.16008266dup g.16006643dup PROM1 nucleotide 1, protein 1:c.1214_1215delTA, p.Ile405Thrfs*9 nucleotide 2, protein 2:c.1354dupT, p.Tyr452Leufs*13 - PROM1_000004 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 61 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. - c.1354dup r.(1354dup) p.(Tyr452Leufs*13) Unknown - pathogenic (dominant) g.16008261dup - - - PROM1_000004 - - - - De novo - - - - - DNA SEQ-NG - - maculopathy - - - - - - - - - - - 1 Oscar F Chacon-Camacho
+/. 11 c.1354dup r.(?) p.(Tyr452Leufs*13) Parent #1 - pathogenic g.16008261dup - c.1354dup - PROM1_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. - c.1354dup r.(?) p.(Tyr452LeufsTer13) Both (homozygous) ACMG likely pathogenic g.16008266dup g.16006643dup - - PROM1_000004 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-853 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. 13 c.1354dup r.(?) p.(Tyr452LeufsTer13) Both (homozygous) ACMG pathogenic g.16008266dup g.16006643dup - - PROM1_000004 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067299 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 13 c.1354dup r.(?) p.(Tyr452LeufsTer13) Both (homozygous) ACMG pathogenic g.16008266dup g.16006643dup - - PROM1_000004 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072097 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown ACMG pathogenic g.16008266dup g.16006643dup - - PROM1_000004 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067163 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1354dup r.(?) p.(Tyr452LeufsTer13) Unknown ACMG pathogenic g.16008266dup g.16006643dup - - PROM1_000004 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072047 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1354dupT r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup PROM1 c.1354dupT - PROM1_000004 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 16 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1354_1355insT r.(?) p.(Tyr452Leufs*13) Unknown - likely pathogenic g.16008266dup g.16006643dup PROM1 c.1354_1355 ins T - PROM1_000004 heterozygous PubMed: Strauss 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 5 PubMed: Strauss 2018 - - - - - - - - - 1 LOVD
+?/. - c.1354_1355insT r.(?) p.(Tyr452Leufs*13) Parent #1 ACMG pathogenic g.16008266dup g.16006643dup PROM1 c.1354_1355insT, p.Tyr452Leufs*13 - PROM1_000004 compound heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AR12 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+?/. - c.1354_1355insT r.(?) p.(Tyr452Leufs*13) Both (homozygous) ACMG pathogenic g.16008266dup g.16006643dup PROM1 c.1354_1355insT, p.Tyr452Leufs*13 - PROM1_000004 homozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AR13 PubMed: Cehajic-Kapetanovic 2019 - M - - - - - - - 1 LOVD
+?/. - c.1354_1355insT r.(?) p.(Tyr452Leufs*13) Parent #1 ACMG pathogenic g.16008266dup g.16006643dup PROM1 c.1354_1355insT, p.Tyr452Leufs*13 - PROM1_000004 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
+?/. - c.1354_1355insT r.(?) p.(Tyr452Leufs*13) Parent #1 ACMG pathogenic g.16008266dup g.16006643dup PROM1 c.1354_1355insT, p.Tyr452Leufs*13 - PROM1_000004 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.1354_1355insT r.(?) p.(Tyr452Leufs*13) Parent #1 ACMG pathogenic g.16008266dup g.16006643dup PROM1 c.1354_1355insT, p.Tyr452Leufs*13 - PROM1_000004 compound heterozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AR4 PubMed: Cehajic-Kapetanovic 2019 - M - - - - - - - 1 LOVD
+?/. - c.1354_1355insT r.(?) p.(Tyr452Leufs*13) Both (homozygous) ACMG pathogenic g.16008266dup g.16006643dup PROM1 c.1354_1355insT, p.Tyr452Leufs*13 - PROM1_000004 homozygous PubMed: Cehajic-Kapetanovic 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - customized HaloPlex enrichment system kit - 117 retinal genes retinal disease AR5 PubMed: Cehajic-Kapetanovic 2019 - F - - - - - - - 1 LOVD
+?/. - c.1355dup r.(?) p.(Tyr452*) Unknown ACMG likely pathogenic g.16008260dup g.16006637dup USH2A c.2299del, p.(Glu767Serfs*21), c.4714C>T, p.(Leu1572Phe), c.8254G>A, p.(Gly2752Arg),, pROM1 c.1355dup, p.(Tyr452*) - PROM1_000004 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 270 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
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