PIK3R1

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

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Amber PIK3R1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.18

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 1.59

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 1.30

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 1.69

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 Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

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 1.11

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 1.38

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


Version 2.193
Signed off v.2.1 on 24 Feb 2020

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 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • SHORT syndrome 269880

Green PIK3R1 in Monogenic diabetes


Version 2.3
Signed off v.2.2 on 25 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880
  • SHORT syndrome

Green PIK3R1 in Respiratory ciliopathies including non-CF bronchiectasis


Version 1.7
Signed off v.1.3 on 2 Mar 2020

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.19
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Expert list
    Phenotypes
    • SHORT syndrome 269880

    Green PIK3R1 in Fetal anomalies


    Version 1.95
    Signed off v.1.92 on 21 Aug 2020

    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 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SHORT SYNDROME 269880
    • AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214

    Green PIK3R1 in Growth failure in early childhood


    Version 1.10
    Signed off v.1.4 on 3 Mar 2020

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

    Amber PIK3R1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.315
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • ?Agammaglobulinemia 7, autosomal recessive, 615214
    • SHORT
    • syndrome, 269880
    • Immunodeficiency 36, 616005

    Green PIK3R1 in Severe Paediatric Disorders


    Version 1.11

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency 36, 616005
    • SHORT syndrome, 269880
    • ?Agammaglobulinemia 7, autosomal recessive, 615214