A- or hypo-gammaglobulinaemia
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
6 reviews
William Rae (University Hospital Southampton NHS Foundation Trust)
Christopher Duncan (Newcastle University)
Tracy Briggs (Manchester Genomic Medicine Centre)
Sophie Hambleton (Newcastle University)
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
agammaglobulinaemia (AR); immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
Publications
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Five positive expert reviews. Disease association on Gen2Phen. LOF variant found in one homozygous Agammaglobulinemia 7 patient and more than three LOF variants found in unrelated Immunodeficiency 36 patientsCreated: 11 May 2016, 10:26 a.m.
Comment on mode of inheritance: From omim for Agammaglobulinemia 7, autosomal recessiveCreated: 10 May 2016, 9:55 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Agammaglobulinemia 7, autosomal recessive, 615214
- SHORT syndrome, 269880
- Immunodeficiency 36 616005
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Corneal abnormalities
- Skeletal dysplasia
- Monogenic short stature
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Segmental overgrowth disorders - Deep sequencing
- Respiratory ciliopathies including non-CF bronchiectasis
- Intellectual disability
- Familial diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for PIK3R1 were set to 22351933; 9888855; 25133428; 25488983
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, 615214;SHORT syndrome, 269880;Immunodeficiency 36 616005
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)Mode of pathogenicity for PIK3R1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, 615214; SHORT syndrome, 269880; Immunodeficiency 36 616005
Set publications
Sarah Leigh (Genomics England Curator)Publications for PIK3R1 were set to 22351933; 9888855; 25133428; 25488983
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PIK3R1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)Mode of pathogenicity for PIK3R1 was changed 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
Sarah Leigh (Genomics England Curator)Mode of inheritance for PIK3R1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()PIK3R1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: UKGTN
Added New Source
GEL ()PIK3R1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen