Monogenic diabetes
Gene: PIK3R1
Comment on phenotypes: Previous phenotypes:
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndromeCreated: 16 Mar 2021, 2:19 p.m. | Last Modified: 16 Mar 2021, 2:19 p.m.
Panel Version: 2.31
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.
Comment on list classification: Gene added to the panel as green due to expert review.Created: 15 Jun 2016, 3:30 p.m.
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, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880
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
Ivone Leong: Initial gene list and info col
Source NHS GMS was added to PIK3R1.
Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1
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
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