Retinal disorders

Gene: KCNV2

Green List (high evidence)

Outer retinal abnormalities are present in all seven cases 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).

This gene has been associated with relevant phenotypes in both OMIM and Gene2Phenotype.

Created: 10 Feb 2023, 9:53 a.m. | Last Modified: 10 Feb 2023, 9:53 a.m.

Panel Version: 3.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal cone dystrophy 3B, OMIM:610356

Publications

• 23221069
• 31960170
• 34535971
• 34652420

Green List (high evidence)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal cone dystrophy 3B

Variants in this GENE are reported as part of current diagnostic practice

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:04 a.m.