Adult onset movement disorderGene: GFAP
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green - despite two initial red ratings from two GLH groups. Adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis.
Created: 5 Aug 2019, 2:50 p.m. | Last Modified: 5 Aug 2019, 2:50 p.m.
Panel Version: 0.91
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Phenotypes for gene: GFAP were changed from Alexander disease 203450 to Alexander disease, OMIM:203450
Gene: gfap has been classified as Green List (High Evidence).
Source London North GLH was added to GFAP.
Added phenotypes Alexander disease 203450 for gene: GFAP Publications for gene GFAP were changed from 15732098; 14557587 to 14557587; 15732098
Source NHS GMS was added to GFAP.
Source South West GLH was added to GFAP.
gene: GFAP was added gene: GFAP was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GFAP were set to 15732098; 14557587 Phenotypes for gene: GFAP were set to Alexander disease 203450