Adult onset dystonia, chorea or related movement disorder
Gene: GFAPEnsemblGeneIds (GRCh38): ENSG00000131095
EnsemblGeneIds (GRCh37): ENSG00000131095
OMIM: 137780, Gene2Phenotype
GFAP is in 15 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Louise Daugherty (Genomics England Curator)
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.
Emily Jones (North Bristol NHS Trust)
Movement disorder is not a common feature. Would seem more appropriate on other panels.Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alexander disease 203450
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Alexander disease, OMIM:203450
- OMIM
- 137780
- Clinvar variants
- Variants in GFAP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
- Hydrocephalus
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GFAP were changed from Alexander disease 203450 to Alexander disease, OMIM:203450
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: gfap has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to GFAP.
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Alexander disease 203450 for gene: GFAP Publications for gene GFAP were changed from 15732098; 14557587 to 14557587; 15732098
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GFAP.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to GFAP.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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