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  3. KCNJ16
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Deafness_IsolatedAndComplex

Gene: KCNJ16

Green List (high evidence)
KCNJ16 (potassium voltage-gated channel subfamily J member 16)
EnsemblGeneIds (GRCh38): ENSG00000153822
EnsemblGeneIds (GRCh37): ENSG00000153822
OMIM: 605722, Gene2Phenotype
KCNJ16 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

8 unrelated families reported.
Sources: Literature
Created: 30 Jun 2021, 8:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness

Publications

Created: 30 Jun 2021, 8:33 a.m.

Panel version: 1.150

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited renal tubular disease, MONDO:0015962, KCNJ16-related
  • Renal tubulopathy
  • deafness
OMIM
605722
Clinvar variants
Variants in KCNJ16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness

30 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj16 has been classified as Green List (High Evidence).

30 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnj16 has been classified as Green List (High Evidence).

30 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNJ16 was added gene: KCNJ16 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ16 were set to 33811157; 33840812 Phenotypes for gene: KCNJ16 were set to Renal tubulopathy; deafness Review for gene: KCNJ16 was set to GREEN