Familial Neural Tube Defects
Gene: PIK3CA
PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
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Details
- Sources
-
- Other
- UKGTN
- Phenotypes
-
- Clove Syndrome
- Cloves syndrome
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- Skeletal dysplasia
- Cerebral vascular malformations
- Neurological segmental overgrowth
- Genodermatoses with malignancies
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Mosaic skin disorders - Deep sequencing
- Hydrocephalus
- Malformations of cortical development
- Familial Neural Tube Defects
- Early onset or syndromic epilepsy
- Intellectual disability
- Hereditary haemorrhagic telangiectasia
- Limb disorders
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Pigmentary skin disorders
- DDG2P
- Vascular skin disorders
History Filter Activity
25 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)PIK3CA was added to Familial Neural Tube Defectspanel. Source: Other
22 Sep 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)PIK3CA was created by oniblock
22 Sep 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)PIK3CA was added to Familial Neural Tube Defectspanel. Sources: UKGTN