PanelApp
  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

Green PIK3R1 in Vasculitis


Level 2: Immunological disorders
Version 0.93

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PIK3R1 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.15

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SHORT syndrome, MIM# 269880

Amber PIK3R1 in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • SHORT syndrome, MIM# 269880

Amber PIK3R1 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.63

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Agammaglobulinemia 7, autosomal recessive 615214
  • Immunodeficiency 36 616005
  • SHORT syndrome 269880

Green PIK3R1 in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SHORT syndrome, MIM# 269880

Green PIK3R1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SHORT syndrome, MIM# 269880
  • Lipodystrophy
  • insulin resistance

Green PIK3R1 in Mendeliome


Version 1.3512

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • SHORT syndrome, MIM # 269880
  • Immunodeficiency 36, MIM#616005

Green PIK3R1 in Additional findings_Adult


Level 2: Screening
Version 1.130

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

Green PIK3R1 in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 1.4

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews Unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green PIK3R1 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency 36 MIM#616005

    Red PIK3R1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • SHORT syndrome, MIM#269880

    Green PIK3R1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    • NHS GMS
    • UKGTN
    • Victorian Clinical Genetics Services
    Phenotypes
    • SHORT syndrome 269880

    Red PIK3R1 in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review Other
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • capillary and lymphatic malformation
    Tags
    • somatic

    Green PIK3R1 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.152

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • SHORT syndrome MONDO:0010026
    • Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880

    Green PIK3R1 in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.16

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review Other
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • capillary malformation MONDO:0016231, PIK3R1-related

    Green PIK3R1 in Growth failure


    Version 1.83

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • SHORT syndrome, OMIM # 269880

    Green PIK3R1 in Fetal anomalies


    Version 1.465

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • SHORT syndrome, MIM#269880

    Green PIK3R1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Agammaglobulinemia 7, autosomal recessive, MIM# 615214
    • Immunodeficiency 36, MIM# 616005
    Tags
    • treatable
    • immunological

    Green PIK3R1 in Autoimmune Lymphoproliferative Syndrome


    Level 2: Immunological disorders
    Version 1.11

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency 36, MIM# 616005