Vitreoretinopathy
Gene: KCNJ13

KCNJ13 (potassium voltage-gated channel subfamily J member 13)
EnsemblGeneIds (GRCh38): ENSG00000115474
EnsemblGeneIds (GRCh37): ENSG00000115474
OMIM: 603208, Gene2Phenotype
KCNJ13 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD), though individuals with bi-allelic variants and LCA with subsequent fibrovascular proliferation described (PMID 31647904).

Single family reported with snowflake vitreoretinal degeneration, supportive functional data.
Created: 16 Jan 2021, 9:30 a.m. | Last Modified: 16 Jan 2021, 9:30 a.m.

Panel Version: 0.38

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Snowflake vitreoretinal degeneration, MIM# 193230

Publications

Created: 16 Jan 2021, 9:30 a.m.
Last Modified: 16 Jan 2021, 9:30 a.m.
Panel version: 0.38

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Snowflake vitreoretinal degeneration, MIM# 193230

OMIM

603208

Clinvar variants

Variants in KCNJ13

Penetrance

None

Publications

Panels with this gene