PIK3R1

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

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green PIK3R1 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PIK3R1 in Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Version 1.12	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 0.366	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 1.39	review	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	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 1.17	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 1.1891	review	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 Predominantly Antibody Deficiency Level 2: Immunological disorders Version 0.135 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Green PIK3R1 in Common Variable Immunodeficiency Level 2: Immunological disorders Version 1.12 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 36 MIM#616005
Red PIK3R1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	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 0.285	review	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 1.11 Component of the following Super Panels: Vascular Malformations SuperPanel	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 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	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 1.13 Component of the following Super Panels: Vascular Malformations SuperPanel	review	Other	Sources Expert Review Green Expert list Expert list Phenotypes capillary malformation MONDO:0016231, PIK3R1-related
Green PIK3R1 in Growth failure Version 1.76	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 1.255	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 BabyScreen+ newborn screening Level 2: Screening Version 1.113	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