Full data view for gene RPE65

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000329.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 97del20bp - RPE65_000028 DNA change not mentioned PubMed: Jacobson 2012 - - Germline yes - ApoI-;MluCI- - - DNA ? - - LCA - PubMed: Jacobson 2012 - F ? - ? - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 20 bp deletion in exon 4 nt 344 to 363 - RPE65_000028 - PubMed: Poehner 2000 - - Germline yes - ApoI-;MluCI- - - DNA PCR, SEQ - - RD - PubMed: Poehner 2000 - F yes Italy Italian - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 20 bp deletion in exon 4 nt 344 to 363 - RPE65_000028 - PubMed: Poehner 2000 - - Germline yes - ApoI-;MluCI- - - DNA PCR, SEQ - - RD - PubMed: Poehner 2000 - M yes Italy Italian - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 20 bp deletion in exon 4 nt 344 to 363 - RPE65_000028 - PubMed: Poehner 2000 - - Germline yes - ApoI-;MluCI- - - DNA PCR, SEQ - - RD - PubMed: Poehner 2000 - F yes Italy Italian - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 97del20bp - RPE65_000028 - PubMed: Jacobson 2008 - - Germline - - ApoI- - - DNA SSCA, SEQ - - LCA - PubMed: Jacobson 2008 - ? ? - ? - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - PubMed: Simovich 2001 - - Germline yes - ApoI-;MluCI- - - DNA PCR, SEQ, Southern - - LCA - PubMed: Simovich 2001 - ? ? - ? - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 344del20 - RPE65_000028 - PubMed: Thompson 2000 - - Germline yes - ApoI-;MluCI- - - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no - ? - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del Arg97 del20, aGGATCGTCATAACAGAATTT - RPE65_000028 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del Arg97 del20, aGGATCGTCATAACAGAATTT - RPE65_000028 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del Arg97 del20, aGGATCGTCATAACAGAATTT - RPE65_000028 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del Arg97 del20, aGGATCGTCATAACAGAATTT - RPE65_000028 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - PubMed: Jacobson 2007 - - Germline - - ApoI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - - LCA2 RPCR-II-1 - 1 generation- 1 affected (F) F ? Costa Rica - - - - none 1 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Maternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - - LCA2 RPCR-III-1 - 2 generations- 1 affected (M), mother- confirmed carrier, father- inferred carrier M no Costa Rica - - - - none 1 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Paternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES retinal disease RPCR-I-1 - 2 generations- 2 affected (2M), Mother and father- confirmed carriers M no Costa Rica - - - - none 2 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Paternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES retinal disease RPCR-I-2 - 2 generations- 2 affected (2M), mother and father- confirmed carriers M no Costa Rica - - - - none 2 Bailey Glen
+/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-IV-1 - 1 generations- 1 affected (F) F no Costa Rica - - - - none 1 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Maternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-VIII-1 - 2 generations- 3 affected 2(F), mother is affected F no Costa Rica - - - - none 3 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Maternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-VIII-1 - 2 generations- 3 affected 2(F), mother is affected F no Costa Rica - - - - none 3 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-VIII-2 - 2 generations- 3 affected 2(F), mother affected F no Costa Rica - - - - none 3 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Maternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-IX-1 - 2 generations- 2 affected 1(M) and 1(F), mother confirmed carrier M no Costa Rica - - - - none 2 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Maternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-IX-2 - 2 generations- 2 affected 1(M) and 1(F), mother confirmed carrier F no Costa Rica - - - - none 2 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-X-1 - 1 generation- 1 affected (F) F no Costa Rica - - - - none 1 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Both (homozygous) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-XI-1 - 2 generations- 1 affected (F), 2 confirmed carrier parents F no Costa Rica - - - - none 1 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Paternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-XVII-1 - 2 generations- 2 affected 1(F) and 1(M), both parents are confirmed heterozygotes F no Costa Rica - - - - none 2 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Paternal (confirmed) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-XVII-2 - 2 generations- 2 affected 1(F) and 1(M), both parents are confirmed heterozygotes M no Costa Rica - - - - none 2 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - DNA SEQ-NG-I - WES LCA2 RPCR-XIX-1 - 1 generation- 1 affected 1(M), mother is confirmed heterozygous carrier, also diagnosed with Ushers - parents unknown carrier status - sequencing was done only on RPE65 for the parents M no Costa Rica - - - - none 1 Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98HisfsTer26) Parent #1 - likely pathogenic g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/25 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+/. - c.292_311del r.(?) p.(Ile98Hisfs*26) Unknown ACMG pathogenic g.68910503_68910522del g.68444820_68444839del RPE65 c.292_311deI p.IIe98HisfsTer26 - RPE65_000028 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 83 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. 4 c.292_311del r.(?) p.(Ile98Hisfs*26) Parent #1 - pathogenic g.68910501_68910520del - c.292_311del - RPE65_000028 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
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