Leukodystrophy - adult onset
Gene: GFAP

GFAP (glial fibrillary acidic protein)
EnsemblGeneIds (GRCh38): ENSG00000131095
EnsemblGeneIds (GRCh37): ENSG00000131095
OMIM: 137780, Gene2Phenotype
GFAP is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3 forms of Alexander disease are recognised, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity.
Created: 4 May 2020, 10:59 p.m. | Last Modified: 4 May 2020, 10:59 p.m.

Panel Version: 0.50

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alexander disease, MIM# 203450

Created: 4 May 2020, 10:59 p.m.
Last Modified: 4 May 2020, 10:59 p.m.
Panel version: 0.50

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Alexander disease, 203450

OMIM

137780

Clinvar variants

Variants in GFAP

Penetrance

None

Panels with this gene

History Filter Activity

4 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gfap has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GFAP was added gene: GFAP was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GFAP were set to Alexander disease, 203450

Leukodystrophy - adult onset Gene: GFAP