Ataxia - 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

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Created: 20 Apr 2020, 3:55 a.m. | Last Modified: 20 Apr 2020, 6:15 a.m.

Panel Version: 0.2440

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy; macrocephaly

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Apr 2020, 3:55 a.m.
Last Modified: 20 Apr 2020, 6:15 a.m.
Panel version: Imported from Mendeliome panel version 0.2368

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Alexander disease, 203450
Autosomal Dominant Ataxia
Alexander disease

OMIM

137780

Clinvar variants

Variants in GFAP

Penetrance

None

Panels with this gene

History Filter Activity

19 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 Ataxia - 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; Autosomal Dominant Ataxia; Alexander disease

Ataxia - adult onset Gene: GFAP