Hereditary ataxia - adult onsetGene: HEXA
On Sheffield and Oxford panels. Will be on metabolic panel (lysosomal storage disorder) but there are rare milder later onset forms (NIH Genetics home) GM2 gangliosidosis which account for 16/186 mutations in HGMD.
Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.
Mulitple reports in the literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tay-Sachs disease, 272800
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to HEXA.
Added phenotypes Tay-Sachs disease, 272800 for gene: HEXA
Source NHS GMS was added to HEXA.
Source Wessex and West Midlands GLH was added to HEXA.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
gene: HEXA was added gene: HEXA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal