PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
OMIM: 171834
PanelMode of inheritanceDetails
12 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
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
R-numbers: R21, R412
Signed-off version 4.0
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 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501, Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
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
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria, hemimegalencephaly, macrocephaly
R-numbers: R429
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501, Macrodactyly, somatic, OMIM:155500, Cerebral cavernous malformations 4, somatic, OMIM:619538, CLOVE syndrome, somatic, OMIM:612918
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PIK3CA-related overgrowth syndromes, Vascular malformations
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 2.13
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
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
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
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PIK3CA-related overgrowth syndromes, Vascular malformations