Neurological segmental overgrowth
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Changed MOI from 'Other' to 'monoallelic' following discussion with clinical team.Created: 11 Apr 2017, 1:32 p.m.
In a number of patients with CLOVE syndrome (OMIM:612918), Kurek et al., 2012 (PMID:22658544) identified somatic mosaic mutations in the PIK3CA gene (H1047R rs121913279, E542K rs121913273, C420R rs121913272 mutations) in affected tissues. They concluded that CLOVE syndrome is caused by postzygotic activating mutations in PIK3CA. Full details are available on OMIM.
In a number of patients with MCAP (OMIM:602501), mosaic mutations have been found (G914R rs587776932, C378Y rs397514565, H1047Y rs121913281); the C378Y mutation shows varying levels of mosaicsm. Full details are available on OMIM.
Created: 15 Nov 2016, 4:50 p.m.
Comment on list classification: Updated rating from Amber to Green because PIK3CA in original list provided by Richard Scott.Created: 7 Nov 2016, 2:47 p.m.
CLOVE syndrome can be caused by somatic mosaicism for postzygotic activating mutations in the PIK3CA gene.Created: 7 Nov 2016, 2:41 p.m.
Mode of inheritance
Other
Mode of pathogenicity
Other
Richard Scott (North Thames GMC/UCL)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- 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
- Tags
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- Panels with this gene
-
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Malformations of cortical development
- Familial Neural Tube Defects
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Childhood solid tumours
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Skeletal dysplasia
- Neurological segmental overgrowth
- Hereditary haemorrhagic telangiectasia
History Filter Activity
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag mosaicism tag was added to gene: PIK3CA. Tag somatic tag was added to gene: PIK3CA.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PIK3CA were changed from CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501 to 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP to CLAPO syndrome, somatic, OMIM:613089; CLOVE syndrome, somatic, OMIM:612918; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: PIK3CA was added gene: PIK3CA was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP