Hereditary ataxia - adult onsetGene: 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 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. Note that a single frameshift variant is listed in HGMDPro but occurs within 50nt of terminal exon-exon boundary so not consistent with LoF
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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