Hereditary ataxia - adult onsetGene: SRD5A3
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 reports in literature - cerebellar vermis abnormalities reported in affected individuals
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital disorder of glycosylation type Iq, 612379
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Congenital disorder of glycosylation type Iq, 612379 for gene: SRD5A3
Source NHS GMS was added to SRD5A3.
Source Wessex and West Midlands GLH was added to SRD5A3.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
gene: SRD5A3 was added gene: SRD5A3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal