Hereditary Spastic Paraplegia - adult onset
Gene: GFAPEnsemblGeneIds (GRCh38): ENSG00000131095
EnsemblGeneIds (GRCh37): ENSG00000131095
OMIM: 137780, Gene2Phenotype
GFAP is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Spastic paraparesis/spasticity has been reported as a prevalent feature of the adult form of the disease.
Sources: LiteratureCreated: 8 Jun 2023, 4:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alexander disease MONDO:0008752
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Alexander disease MONDO:0008752
- OMIM
- 137780
- Clinvar variants
- Variants in GFAP
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gfap has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gfap has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: GFAP was added gene: GFAP was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GFAP were set to 11138011; 18684770 Phenotypes for gene: GFAP were set to Alexander disease MONDO:0008752 Mode of pathogenicity for gene: GFAP was set to Other Review for gene: GFAP was set to GREEN gene: GFAP was marked as current diagnostic