A- or hypo-gammaglobulinaemia
Gene: PIK3R1
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
agammaglobulinaemia (AR); immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
Publications
Comment when marking as ready: Five positive expert reviews. Disease association on Gen2Phen. LOF variant found in one homozygous Agammaglobulinemia 7 patient and more than three LOF variants found in unrelated Immunodeficiency 36 patientsCreated: 11 May 2016, 10:26 a.m.
Comment on mode of inheritance: From omim for Agammaglobulinemia 7, autosomal recessiveCreated: 10 May 2016, 9:55 a.m.
This gene has been classified as Green List (High Evidence).
Publications for PIK3R1 were set to 22351933; 9888855; 25133428; 25488983
Phenotypes for gene PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, 615214;SHORT syndrome, 269880;Immunodeficiency 36 616005
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for PIK3R1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Phenotypes for PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, 615214; SHORT syndrome, 269880; Immunodeficiency 36 616005
Publications for PIK3R1 were set to 22351933; 9888855; 25133428; 25488983
Mode of inheritance for PIK3R1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mode of pathogenicity for PIK3R1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for PIK3R1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PIK3R1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: UKGTN
PIK3R1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen