PIK3R1

phosphoinositide-3-kinase regulatory subunit 1
OMIM: 171833
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SHORT SYNDROME 269880, AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SHORT SYNDROME
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome, 269880, SHORT
R-numbers: R141
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880, SHORT syndrome
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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
R-numbers: R189
Signed-off version 1.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 36, 616005, Bronchiectasis
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome 269880