Cerebral Palsy
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
Clare van Eyk (University of Adelaide)
One individual with a complex neurodevelopmental disorder including cerebral palsy reported with a de novo missense variant in GFAP (PMID: 38843839). Alexander disease has variable onset and progression, with frequent spasticity and ataxia reported.
Sources: LiteratureCreated: 24 Jul 2024, 1:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alexander disease, MIM#203450
Publications
- PMID: 38843839
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Alexander disease, MIM#203450
- OMIM
- 137780
- Clinvar variants
- Variants in GFAP
- Penetrance
- None
- Publications
-
- PMID: 38843839
- Panels with this gene
-
- Leukodystrophy - adult onset
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
24 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gfap has been classified as Red List (Low Evidence).
24 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gfap has been classified as Red List (Low Evidence).
24 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: GFAP was added gene: GFAP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GFAP were set to PMID: 38843839 Phenotypes for gene: GFAP were set to Alexander disease, MIM#203450 Review for gene: GFAP was set to RED