Common Variable Immunodeficiency
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
36 cases with PIK3R1-associated immunodeficiency were detected with c.1425+1G>A (42%), c.1425+1G>C (29%), c.1425+1G>T (13%). Four additional cases had mutations involving c.1425+2, and another had a G-C substitution at the -1 position of the splice acceptor site of exon 11. Analysis of patient mRNA demonstrated that all of the variants cause skipping of exon 11 (coding exon 10).
On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert listCreated: 21 Jul 2020, 4:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 36 MIM#616005
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Immunodeficiency 36 MIM#616005
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Glaucoma congenital
- Monogenic Diabetes
- Ciliary Dyskinesia
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Vascular Malformations_Germline
- Vascular Malformations_Somatic
- Skeletal dysplasia
- Fetal anomalies
- Lipodystrophy_Lipoatrophy
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pik3r1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pik3r1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PIK3R1 was added gene: PIK3R1 was added to Common Variable Immunodeficiency. 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 32048120; 27076228 Phenotypes for gene: PIK3R1 were set to Immunodeficiency 36 MIM#616005 Review for gene: PIK3R1 was set to GREEN