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DDG2P

Gene: PIK3R1

Green List (high evidence)

PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 18 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; monoallelic for SHORT SYNDROME. Both syndromes have a Disease confidence rating of 'confirmed'.
Created: 11 Jun 2019, 3:10 p.m.
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame, loss of function. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

11 Jun 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: PIK3R1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214 for gene: PIK3R1 Publications for gene PIK3R1 were changed from 23810378 to 22351933

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PIK3R1 was added gene: PIK3R1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to 23810378 Phenotypes for gene: PIK3R1 were set to SHORT SYNDROME 269880