Segmental overgrowth disorders - Deep sequencing
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
3 reviews
Achchuthan Shanmugasundram (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: 4 Dec 2024, 5:08 p.m. | Last Modified: 4 Dec 2024, 5:08 p.m.
Panel Version: 3.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least 17 cases have been identified with somatic mosaic variants in PIK3R1 (PMIDs: 34040190; 35964931). Affected individuals exhibit various vascular lesions and overgrowth which were comparable to features of the PIK3CA-related overgrowth spectrum.Created: 9 Aug 2023, 9:34 a.m. | Last Modified: 9 Aug 2023, 9:34 a.m.
Panel Version: 3.8
Tom Cullup (Great Ormond Street Hospital)
Sources: Expert listCreated: 5 May 2023, 1:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Vascular malformation and overgrowth
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Vascular malformation and overgrowth
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- unknown
- 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
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Insulin resistance (including lipodystrophy)
- Corneal abnormalities
- Monogenic short stature
- COVID-19 research
- Familial diabetes
- Segmental overgrowth disorders - Deep sequencing
- Respiratory ciliopathies including non-CF bronchiectasis
- Monogenic diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Skeletal dysplasia
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: PIK3R1. Tag Q3_23_NHS_review was removed from gene: PIK3R1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to PIK3R1. Source Expert Review Green was added to PIK3R1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: PIK3R1. Tag Q3_23_NHS_review tag was added to gene: PIK3R1.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Tom Cullup (Great Ormond Street Hospital)gene: PIK3R1 was added gene: PIK3R1 was added to Segmental overgrowth disorders - Deep sequencing. Sources: Expert list Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R1 were set to PMID: 34040190; 35964931 Phenotypes for gene: PIK3R1 were set to Vascular malformation and overgrowth Penetrance for gene: PIK3R1 were set to unknown Mode of pathogenicity for gene: PIK3R1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PIK3R1 was set to GREEN