Genomics England

PIK3R2

phosphoinositide-3-kinase regulatory subunit 2

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 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 Signed-off version 9.56	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
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 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 9.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation - Paediatric disorders Signed-off version 8.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Green in Neurological segmental overgrowth Component of the following Super Panels: - Cerebral malformation - Paediatric disorders Signed-off version 3.5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Green in Segmental overgrowth disorders - Deep sequencing R-numbers: R110 Signed-off version 5.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Green in Vascular skin disorders R-numbers: R326 Signed-off version 2.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387