Genomics England

GFAP

glial fibrillary acidic protein

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset movement disorder R-numbers: R56 Signed-off version 1.121	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Alexander disease, OMIM:203450
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 2.23	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 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ALEXANDER DISEASE 203450
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ALEXANDER DISEASE
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Alexander disease, 203450, seizures
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 2.13	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 2.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Alexander disease 203450
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Alexander disease, 203450, ALEXANDER DISEASE
Green in Neurodegenerative disorders - adult onset R-numbers: R58 Signed-off version 2.178	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Autosomal Dominant Ataxia, Alexander disease, OMIM:203450
Green in White matter disorders - adult onset R-numbers: R62 Signed-off version 1.25	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Alexander disease, 203450
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - White matter disorders - childhood onset Signed-off version 1.12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy