Mosaic brain disorders - deep sequencing
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CLOVE syndrome, somatic, OMIM:612918; Cerebral cavernous malformations 4, somatic, OMIM:619538; Macrodactyly, somatic, OMIM:155500; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on classification of this gene: This gene should be rated GREEN, as it has been implicated in at least three unrelated cases.
The mosaic activating variants identified in PIK3CA include p.Glu545Lys, p.Glu542Lys, p.Thr544Asn and p.His1047Arg.
This gene has been associated with multiple phenotypes in OMIM. The relevant ones are added here.Created: 21 Dec 2022, 3:29 p.m. | Last Modified: 21 Dec 2022, 3:31 p.m.
Panel Version: 0.32
Mode of inheritance
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
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:29 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: postzygotic mosaicm. Publications: For summary see Jansen et al 2015, Brain and above MTOR pathway summary papers. Mechanism: Gain of function (MTOR hyperactivation). Penetrance: variable penetrance.Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2
Phenotypes
Megalencehaly Capillary Malformation Polymicrogyria syndrome (MCAP), Macrodactyly, cerebral cavernous malformations, CLOVE syndrome. NB also several additional phenotypes not relevant to this panel indication, including Cowden syndrome and other somatic variants within various tumours
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- 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
- Tags
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Limb disorders
- Skeletal dysplasia
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Malformations of cortical development
- Hydrocephalus
- Childhood solid tumours
- Familial Neural Tube Defects
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Pigmentary skin disorders
- Early onset or syndromic epilepsy
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- DDG2P
- Neurological segmental overgrowth
- Hereditary haemorrhagic telangiectasia
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to PIK3CA.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PIK3CA were set to 25722288
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag somatic tag was added to gene: PIK3CA.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PIK3CA were set to
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PIK3CA were changed from to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501; Macrodactyly, somatic, OMIM:155500; Cerebral cavernous malformations 4, somatic, OMIM:619538; CLOVE syndrome, somatic, OMIM:612918
Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)Mode of pathogenicity for gene: PIK3CA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pik3ca has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: PIK3CA was added gene: PIK3CA was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: PIK3CA was set to