Congenital nystagmus

Gene: KCNJ13

Green List (high evidence)

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).

LCA and bi-allelic variants: at least 4 individuals reported. Green.

Single family reported with snowflake vitreoretinal degeneration and mono-allelic variant, supportive functional data. Amber/Red.

Created: 25 Oct 2021, 7:04 a.m. | Last Modified: 25 Oct 2021, 7:04 a.m.

Panel Version: 0.9473

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 16 MIM#614186; Snowflake vitreoretinal degeneration, MIM# 193230

Publications

• 27203561
• 25475713
• 21763485
• 18179896
• 23255580
• 31647904

Green List (high evidence)

Nystagmus is a feature of Leber congenital amaurosis (OMIM).

total of 4 unrelated individuals (+1 with adulthood examination and no childhood medical records available)

Created: 24 Oct 2021, 10:43 p.m. | Last Modified: 24 Oct 2021, 10:43 p.m.

Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 16 MIM#614186

Publications

• 27203561
• 25475713
• 21763485

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