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  3. KCNJ13
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Glaucoma (developmental)

Gene: KCNJ13

Red List (low evidence)
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: Imported from Structural eye disease 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: Imported from Structural eye disease panel version 0.38

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

KCNJ13 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory