Hereditary ataxia

Gene: GFAP

Green List (high evidence)

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene is on the Autosomal Dominant Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. It is a confirmed DD gene for ALEXANDER DISEASE. Multiple unrelated cases and different variants reported in OMIM. Discussed internally and promoted as a green gene.
Created: 23 Aug 2016, 8:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Autosomal Dominant Ataxia

History Filter Activity

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Aug 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GFAP were set to Autosomal Dominant Ataxia;Alexander disease

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GFAP was added to Hereditary ataxiapanel. Sources: Expert list

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GFAP was created by ellenmcdonagh