Renal tubulopathies
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: 31 Jan 2023, 12:39 p.m. | Last Modified: 31 Jan 2023, 12:39 p.m.
Panel Version: 3.3
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
Tag Q2_22_rating was removed from gene: KCNJ16.
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)
Gene: kcnj16 has been classified as Amber List (Moderate Evidence).
Tag Q2_22_rating tag was added to gene: KCNJ16.
Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Hypokalemic tubulopathy and deafness, OMIM:619406
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