Renal tubulopathies
Gene: KCNJ16EnsemblGeneIds (GRCh38): ENSG00000153822
EnsemblGeneIds (GRCh37): ENSG00000153822
OMIM: 605722, Gene2Phenotype
KCNJ16 is in 2 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 12:39 p.m. | Last Modified: 31 Jan 2023, 12:39 p.m.
Panel Version: 3.3
Eleanor Williams (Genomics England Curator)
Comment on list classification: Promoting from grey to amber with a recommendation of green rating following GMS review.Created: 21 May 2022, 11:30 p.m. | Last Modified: 21 May 2022, 11:30 p.m.
Panel Version: 2.54
Associated with Hypokalemic tubulopathy and deafness OMIM#619406 (AR)
PMID:33811157 - Schlingmann et al 2021 - report 8 patients from 7 families with hypokalemic tubulopathy and deafness. All patients had acidosis and sensorineural deafness. All were found to have homozygous or compound heterozygous variants in the KCNJ16 gene. 6 different variants were identified, either missense or nonsesnse.
PMID:33840812 - Webb et al 2021 - report a homozygous loss-of-function variant identified by WES in KCNJ16 c.142A>T; p.(Lys48*) in a 2-year-old female with a hypokalemic metabolic acidosis phenotype. No loss of hearing was noted.Created: 21 May 2022, 11:29 p.m. | Last Modified: 25 May 2022, 8:39 p.m.
Panel Version: 2.54
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Hypokalemic tubulopathy and deafness, OMIM:619406
- OMIM
- 605722
- Clinvar variants
- Variants in KCNJ16
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_22_rating was removed from gene: KCNJ16.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to KCNJ16. Source NHS GMS was added to KCNJ16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: kcnj16 has been classified as Amber List (Moderate Evidence).
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_22_rating tag was added to gene: KCNJ16.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Hypokalemic tubulopathy and deafness, OMIM:619406
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: KCNJ16 was added gene: KCNJ16 was added to Renal tubulopathies. 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