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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. KCNJ13
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: KCNJ13

Green List (high evidence)
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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 families reported with homozygous variants and shRNA lentiviral mouse assays that recapitulate LCA phenotype.
Sources: Expert list
Created: 25 May 2020, 12:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 16 MIM#614186

Publications

Created: 25 May 2020, 12:49 a.m.

Panel version: 0.44

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber congenital amaurosis 16 MIM#614186
OMIM
603208
Clinvar variants
Variants in KCNJ13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcnj13 has been classified as Green List (High Evidence).

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kcnj13 has been classified as Green List (High Evidence).

25 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KCNJ13 was added gene: KCNJ13 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: KCNJ13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ13 were set to 25921210; 21763485 Phenotypes for gene: KCNJ13 were set to Leber congenital amaurosis 16 MIM#614186 Review for gene: KCNJ13 was set to GREEN