Monogenic hearing loss
Gene: KCNJ16
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: 30 Jan 2023, 10:16 a.m. | Last Modified: 30 Jan 2023, 10:16 a.m.
Panel Version: 3.7
Comment on list classification: Rating this gene as amber, but with a recommendation of green rating following GMS review. 7 families reported in PMID:33811157 with hearing loss developing in affected individuals in childhood or adolescence.Created: 21 May 2022, 11:40 p.m. | Last Modified: 25 May 2022, 8:54 p.m.
Panel Version: 2.246
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. Hearing loss was diagnosed in childhood or adolescence. All were found to have homozygous or compound heterozygous variants in the KCNJ16 gene. 6 different variants were identified, either missense or nonsesnse. Functional studies showed that variants affect the function of heteromeric potassium channels.
PMID:33840812 - Webb et al 2021 - report a homozygous loss-of-function variant identified by WES in KCNJ16 in a 2-year-old female with a hypokalemic metabolic acidosis phenotype. Hearing loss is NOT mentioned.
Sources: LiteratureCreated: 21 May 2022, 11:38 p.m. | Last Modified: 25 May 2022, 8:53 p.m.
Panel Version: 2.246
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypokalemic tubulopathy and deafness, OMIM:619406
Publications
Tag Q2_22_rating was removed from gene: KCNJ16.
Source NHS GMS was added to KCNJ16. Source Expert Review Green was added to KCNJ16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag watchlist was removed from gene: KCNJ16. Tag Q2_22_rating tag was added to gene: KCNJ16.
Gene: kcnj16 has been classified as Amber List (Moderate Evidence).
gene: KCNJ16 was added gene: KCNJ16 was added to Hearing loss. Sources: Literature watchlist tags were added to gene: KCNJ16. 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 Hypokalemic tubulopathy and deafness, OMIM:619406 Review for gene: KCNJ16 was set to AMBER