Dystonia - childhood onset

Gene: GFAP

Amber List (moderate evidence)

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

0 reviews

History Filter Activity

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: GFAP was added gene: GFAP was added to Dystonia - childhood onset. Sources: Expert Review Amber Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GFAP were set to 15732098; 14557587 Phenotypes for gene: GFAP were set to Alexander disease 203450