Deafness_IsolatedAndComplex
Gene: KCNJ10
Comment when marking as ready: Note that it is the association with isolated deafness that is disputed. There is ample evidence that bi-allelic variants cause syndromic deafness.Created: 31 Dec 2019, 2:30 a.m. | Last Modified: 31 Dec 2019, 2:30 a.m.
Panel Version: 0.93
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SESAME syndrome 612780
Disputed by ClinGen. Variants found in individuals with deafness and dilated vestibular aqueduct. Postulated to be digenic inheritance with SLC26A4.Created: 31 Dec 2019, 1:30 a.m. | Last Modified: 31 Dec 2019, 1:30 a.m.
Panel Version: 0.76
Gene: kcnj10 has been classified as Green List (High Evidence).
Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780
Publications for gene: KCNJ10 were set to
Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: KCNJ10 was added gene: KCNJ10 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: KCNJ10 was set to Unknown