Genomics England

AKT3

AKT serine/threonine kinase 3

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HEMIMEGALENCEPHALY AKT3 603387
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 R-numbers: R59 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Green in Neurological segmental overgrowth Component of the following Super Panels: - Cerebral malformation Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937, Macrocephaly and Overgrowth Syndromes
Green in Segmental overgrowth disorders - Deep sequencing R-numbers: R110 Signed-off version 3.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937, MPPH2, Macrocephaly and Overgrowth Syndromes, Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2