PIK3R1

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

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Amber PIK3R1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.16

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 1.29

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

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

Component of the following Super Panels:

  • Merge for Monogenic diabetes v1.35
  • 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

    Component of the following Super Panels:

  • Merge for Monogenic diabetes v1.35
  • 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

    Component of the following Super Panels:

  • Merge for Monogenic diabetes v1.35
  • 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 2.0

    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 2.1

    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 1.2

    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 1.216

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • 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 0.346

    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 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • 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 1.3

    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 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • 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