Genomics England

NOTCH3

notch 3

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in CADASIL R-numbers: R337 Signed-off version 1.8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, MONDO:0000914
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	BIALLELIC, autosomal or pseudoautosomal	Phenotypes neurodevelopmental disorder, MONDO:0700092
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes neurodevelopmental disorder, MONDO:0700092
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes neurodevelopmental disorder, MONDO:0700092
Green in Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
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, NOT imprinted	Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Green in Paediatric disorders - additional genes Component of the following Super Panels: - Paediatric disorders Signed-off version 8.8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Lateral meningocele syndrome, OMIM:130720
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	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, OMIM:621295