Structural eye disease
Gene: KCNJ13

KCNJ13 (potassium voltage-gated channel subfamily J member 13)
EnsemblGeneIds (GRCh38): ENSG00000115474
EnsemblGeneIds (GRCh37): ENSG00000115474
OMIM: 603208, Gene2Phenotype
KCNJ13 is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 16; Snowflake vitreoretinal degeneration; 614186; 193230

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Leber congenital amaurosis 16, 614186
Snowflake vitreoretinal degeneration, 193230
Eye Disorders

OMIM

603208

Clinvar variants

Variants in KCNJ13

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to KCNJ13. Mode of inheritance for gene KCNJ13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 16, 614186; Snowflake vitreoretinal degeneration, 193230 for gene: KCNJ13

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: KCNJ13 was added gene: KCNJ13 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: KCNJ13 was set to Phenotypes for gene: KCNJ13 were set to Eye Disorders

Structural eye disease Gene: KCNJ13