Genomics England

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes SHORT SYNDROME 269880, AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SHORT SYNDROME
Green in Monogenic diabetes 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
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes SHORT syndrome, OMIM:269880
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	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
Green in Respiratory ciliopathies including non-CF bronchiectasis R-numbers: R189 Signed-off version 3.10	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Immunodeficiency 36, 616005, Bronchiectasis
Green in Severe insulin resistance and lipodystrophy syndromes R-numbers: R158 Signed-off version 4.56	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes SHORT syndrome, OMIM:269880
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes SHORT syndrome 269880