1. Genes and Genomic Entities
  2. PIK3R1

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1
OMIM: 171833, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Amber PIK3R1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.45

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Agammaglobulinemia 7, autosomal recessive 615214
Amber PIK3R1 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.76

review Not set
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
Green PIK3R1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SHORT syndrome
Green PIK3R1 in COVID-19 research


Level 2: Viral research
Version 1.146

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • A- or hypo-gammaglobulinaemia v1.25
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Agammaglobulinemia
  • Severe bacterial infections, decreased or absent pro-B cells
  • Combined immunodeficiency
  • Immunodeficiency 36
  • Activated PI3K-delta syndrome (APDS)
  • immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
  • Agammaglobulinemia 7, autosomal recessive, 615214
  • Agammaglobulinemia 7
  • Immunodeficiency 36, 616005
  • Predominantly Antibody Deficiencies
  • SHORT syndrome, 269880
  • Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV
Green PIK3R1 in Segmental overgrowth disorders - Deep sequencing


Level 2: Dermatology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Vascular malformation and overgrowth
Green PIK3R1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome
Green PIK3R1 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Literature
Phenotypes
  • SHORT syndrome 269880
Green PIK3R1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome
Green PIK3R1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Immunodeficiency 36
  • Agammaglobulinemia 7, autosomal recessive, 615214
  • SHORT syndrome, 269880
  • Immunodeficiency 36, 616005
  • Agammaglobulinemia 7
  • Immunodeficiency 36
  • Combined immunodeficiency
  • Activated PI3K-delta syndrome (APDS)
  • Agammaglobulinemia
  • immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
  • Severe bacterial infections, decreased or absent pro-B cells
  • Predominantly Antibody Deficiencies
  • Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV
Green PIK3R1 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • SHORT syndrome 269880
Green PIK3R1 in Lipodystrophy - childhood onset


Level 2: Endocrinology
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • SHORT syndrome, OMIM:269880
Green PIK3R1 in Mosaic skin disorders - deep sequencing


Level 2: Dermatology
Version 3.27
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Vascular malformation and overgrowth
Green PIK3R1 in Monogenic diabetes


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • SHORT syndrome, OMIM:269880
Green PIK3R1 in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Immunodeficiency 36, 616005
  • Bronchiectasis
Green PIK3R1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • UKGTN
    Phenotypes
    • SHORT syndrome 269880
    Green PIK3R1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
    • SHORT SYNDROME
    Green PIK3R1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SHORT SYNDROME 269880
    • AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214
    Red PIK3R1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • ?Agammaglobulinemia 7, autosomal recessive, 615214
    • SHORT
    • syndrome, 269880
    • Immunodeficiency 36, 616005
    Green PIK3R1 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • SHORT syndrome, OMIM:269880