Hereditary ataxia with onset in adulthood
Gene: HEXB
As above with 8 Gangliosidosis GM2 mutations listed 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.
Multiple reports in lit. Large deletion reported as a founder mutation - CNV calling usefulCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandhoff disease, 268800
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800; Sandhoff disease, 268800 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Source London North GMS was added to HEXB.
Added phenotypes Sandhoff disease, 268800 for gene: HEXB
Source NHS GMS was added to HEXB.
Source Wessex and West Midlands GLH was added to HEXB.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
gene: HEXB was added gene: HEXB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal