PIK3R1

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

20 panels

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

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42

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 1.74

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 1.58

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 1.141

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
Amber PIK3R1 in Segmental overgrowth disorders - Deep sequencing


Version 3.16
Latest signed off version: v3.3 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Vascular malformation and overgrowth
Tags
  • Q3_23_promote_green
  • Q3_23_NHS_review
Green PIK3R1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

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 1.16

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 1.67

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


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

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 1.13

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


Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • SHORT syndrome, OMIM:269880
Tags
  • Q3_23_promote_green
  • Q3_23_NHS_review
Amber PIK3R1 in Mosaic skin disorders - deep sequencing


Version 2.41
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Vascular malformation and overgrowth
Tags
  • Q3_23_promote_green
  • Q3_23_NHS_review
Green PIK3R1 in Monogenic diabetes


Version 2.54
Latest signed off version: v2.2 (25 Feb 2020)

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


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

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 4.52
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • SHORT syndrome, 269880
    • SHORT
    Red PIK3R1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    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 Severe Paediatric Disorders


    Version 1.182

    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