Structural basal ganglia disorders
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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. Numerous variants reported, but basal ganglian involvement not always present in Alexander disease 203450.Created: 6 Mar 2017, 2:16 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Alexander disease 203450
- OMIM
- 137780
- Clinvar variants
- Variants in GFAP
- Penetrance
- Complete
- 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
16 Mar 2017, Gel status: 2
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
6 Mar 2017, Gel status: 2
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
6 Mar 2017, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GFAP were set to Alexander disease 203450
6 Mar 2017, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for GFAP were set to 15732098; 14557587
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)GFAP was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)GFAP was created by Manju