Hereditary ataxia with onset in adulthood
Gene: GFAP
Ataxia is one of the features of Alexander disease (HPO website and OMIM). 126 DM on 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 groupCreated: 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. Note that a single frameshift variant is listed in HGMDPro but occurs within 50nt of terminal exon-exon boundary so not consistent with LoFCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alexander disease, 203450
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Source London North GMS was added to GFAP.
Added phenotypes Alexander disease, 203450 for gene: GFAP
Source NHS GMS was added to GFAP.
Source Wessex and West Midlands GLH was added to GFAP.
Checked panel against panel constituents. Ready to promote to version 1.
gene: GFAP was added gene: GFAP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GFAP were set to Alexander disease; Autosomal Dominant Ataxia