Disorders of immune dysregulation

Gene: PIK3R1

Green List (high evidence)

PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 18 panels

1 review

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Currently included in predominantly antibody deficiency and CVID panels - patients frequently present with features of immune dysregulation eg. autoimmunity and lymphoproliferation.
Sources: Literature
Created: 28 Feb 2025, 12:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immune dysregulation

Publications

History Filter Activity

3 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3r1 has been classified as Green List (High Evidence).

3 Mar 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIK3R1 were changed from Immune dysregulation to Immunodeficiency 36 MIM#616005

3 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3r1 has been classified as Green List (High Evidence).

28 Feb 2025, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

gene: PIK3R1 was added gene: PIK3R1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R1 were set to PMID: 37600808 Phenotypes for gene: PIK3R1 were set to Immune dysregulation Review for gene: PIK3R1 was set to GREEN