GFAP

glial fibrillary acidic protein
OMIM: 137780
PanelMode of inheritanceDetails
11 panels
R-numbers: R56
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alexander disease, OMIM:203450
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autosomal Dominant Ataxia, Alexander disease
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ALEXANDER DISEASE 203450
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ALEXANDER DISEASE
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alexander disease, 203450, seizures
R-numbers: R54
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autosomal Dominant Ataxia, Alexander disease, Alexander disease, 203450
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alexander disease, OMIM:203450
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alexander disease, 203450, ALEXANDER DISEASE
R-numbers: R58
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autosomal Dominant Ataxia, Alexander disease, OMIM:203450
R-numbers: R62
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alexander disease, 203450
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy