White matter disorders and cerebral calcification - childhood onset
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 137780
- Clinvar variants
- Variants in GFAP
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Hereditary ataxia
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Hydrocephalus
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Neurodegenerative disorders, adult onset
- DDG2P
- Hereditary ataxia, adult onset
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: GFAP was added gene: GFAP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GFAP were set to 25655951 Phenotypes for gene: GFAP were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy Mode of pathogenicity for gene: GFAP was set to Other - please provide details in the comments