Hereditary ataxia - adult onsetGene: KCNJ10
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.
Multiple cases in lit
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
SESAME syndrome, 612780
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes SESAME syndrome, 612780 for gene: KCNJ10
Source NHS GMS was added to KCNJ10.
Source Wessex and West Midlands GLH was added to KCNJ10.
Checked panel against panel constituents. Ready to promote to version 1.
gene: KCNJ10 was added gene: KCNJ10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome