Hereditary ataxia - adult onsetGene: SLC9A6
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
gene: SLC9A6 was added gene: SLC9A6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)