Genomics England

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes HEMIMEGALENCEPHALY PIK3CA, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, HEMIMEGALENCEPHALY PIK3CA
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501, Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Macrodactyly, somatic 155500, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501, CLOVE syndrome, somatic 612918, Polydactyly, CLAPO syndrome, somatic 613089
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Polymicrogyria, hemimegalencephaly, macrocephaly
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes PIK3CA-related overgrowth syndromes, Vascular malformations
Green in Neurological segmental overgrowth Component of the following Super Panels: - Cerebral malformation Signed-off version 2.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cowden syndrome 5, OMIM:615108, CLAPO syndrome, somatic, OMIM:613089, CLOVE syndrome, somatic, OMIM:612918, Macrodactyly, somatic, OMIM:155500, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes MCAP, PIK3CA-related overgrowth syndromes, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, Vascular malformations
Green in Segmental overgrowth disorders - Deep sequencing R-numbers: R110 Signed-off version 3.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501, MCAP, congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918, CLOVE syndrome, Macrocephaly and Overgrowth Syndromes, Megalencephaly-Capillary malformation syndrome, Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome, CLOVES syndrome, Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi, Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome, CLOVES, Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, macrocephaly-capillary malformation (MCM) syndrome
Green in Vascular skin disorders R-numbers: R326 Signed-off version 1.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes PIK3CA-related overgrowth syndromes, Vascular malformations