Monogenic diabetes

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 15 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PIK3R1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Diabetes and SHORT syndrome (short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay).
Created: 11 Jan 2019, 10:04 a.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to the panel as green due to expert review.
Created: 15 Jun 2016, 3:30 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880
  • SHORT syndrome
OMIM
171833
Clinvar variants
Variants in PIK3R1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome; SHORT syndrome to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PIK3R1.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1

18 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1 Publications for gene PIK3R1 were changed from 23810379; 23810382; 23810378 to 23810378

18 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PIK3R1 was added gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R1 were set to 23810379; 23810382; 23810378 Phenotypes for gene: PIK3R1 were set to SHORT syndrome Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments