Genomics England

MAPK8IP3

mitogen-activated protein kinase 8 interacting protein 3

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.28	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Intellectual Disability with Variable Brain Anomalies
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 4.12	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443