Hereditary ataxia
Gene: GFAP
GFAP (glial fibrillary acidic protein)
EnsemblGeneIds (GRCh38): ENSG00000131095
EnsemblGeneIds (GRCh37): ENSG00000131095
OMIM: 137780, Gene2Phenotype
GFAP is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000131095
EnsemblGeneIds (GRCh37): ENSG00000131095
OMIM: 137780, Gene2Phenotype
GFAP is in 15 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene is on the Autosomal Dominant Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. It is a confirmed DD gene for ALEXANDER DISEASE. Multiple unrelated cases and different variants reported in OMIM. Discussed internally and promoted as a green gene.Created: 23 Aug 2016, 8:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autosomal Dominant Ataxia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Autosomal Dominant Ataxia
- Alexander disease
- OMIM
- 137780
- Clinvar variants
- Variants in GFAP
- Penetrance
- Complete
- 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
23 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Aug 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GFAP were set to Autosomal Dominant Ataxia;Alexander disease
23 Aug 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GFAP was added to Hereditary ataxiapanel. Sources: Expert list
23 Aug 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GFAP was created by ellenmcdonagh