Retinal disorders
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
EnsemblGeneIds (GRCh38): ENSG00000115474
EnsemblGeneIds (GRCh37): ENSG00000115474
OMIM: 603208, Gene2Phenotype
KCNJ13 is in 8 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Leber congenital amaurosis 16, 614186
- Leber Congenital Amaurosis
- Eye Disorders
- Snowflake vitreoretinal degeneration, 193230
- OMIM
- 603208
- Clinvar variants
- Variants in KCNJ13
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to KCNJ13. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for KCNJ13 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)KCNJ13 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KCNJ13 was created by ellenmcdonagh