Genomics England

GFAP

glial fibrillary acidic protein

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ALEXANDER DISEASE 203450
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Alexander disease, OMIM:203450
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Alexander disease, 203450, seizures
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ALEXANDER DISEASE
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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 5.14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Alexander disease, OMIM:203450
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Alexander disease, 203450, ALEXANDER DISEASE
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Alexander disease, 203450
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Autosomal Dominant Ataxia, Alexander disease, OMIM:203450
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy