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| Cone-rod Dystrophy v0.49 | KCNV2 | Zornitza Stark Publications for gene: KCNV2 were set to 30679166; 16909397; 18235024; 21882291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.48 | KCNV2 |
Achchuthan Shanmugasundram changed review comment from: Seven cases are identified with homozygous variants in KCNV2 gene and reported with cone dystrophy with supernormal rod responses (CDSRR) in PMID:23221069. Similarly, 15 unrelated patients were identified with three different homozygous KCNV2 variants and reported with CDSRR in PMID:31960170. PMID:34535971 reports a Chinese family with compound heterozygous variants and implicated in CDSRR. KCNV2 knockout mouse exhibits aberrant retinal activities that phenocopies CDSRR patients (PMID:34652420).; to: Additional cases: Seven cases are identified with homozygous variants in KCNV2 gene and reported with cone dystrophy with supernormal rod responses (CDSRR) in PMID:23221069. Similarly, 15 unrelated patients were identified with three different homozygous KCNV2 variants and reported with CDSRR in PMID:31960170. PMID:34535971 reports a Chinese family with compound heterozygous variants and implicated in CDSRR. Functional studies: KCNV2 knockout mouse exhibits aberrant retinal activities that phenocopies CDSRR patients (PMID:34652420). |
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| Cone-rod Dystrophy v0.48 | KCNV2 | Achchuthan Shanmugasundram reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23221069, 31960170, 34535971, 34652420; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.32 | KCNV2 | Zornitza Stark Marked gene: KCNV2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.32 | KCNV2 | Zornitza Stark Gene: kcnv2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.32 | KCNV2 | Zornitza Stark Publications for gene: KCNV2 were set to 30679166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.31 | KCNV2 | Zornitza Stark reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291; Phenotypes: Retinal cone dystrophy 3B, MIM# 610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.0 | KCNV2 |
Bryony Thompson gene: KCNV2 was added gene: KCNV2 was added to Cone-rod Dystrophies. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNV2 were set to 30679166 Phenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B MIM#610356 |
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