Monogenic short stature
Gene: PIK3R1

PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that PIK3R1 should be included on the panel. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.

Created: 30 May 2019, 9:34 a.m.

Copied from panel: Growth failure in early childhood v3.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial 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: SHORT.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
SHORT

Created: 14 May 2019, 1:25 p.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list

Phenotypes

SHORT syndrome, OMIM:269880

OMIM

171833

Clinvar variants

Variants in PIK3R1

Penetrance

None

Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: PIK3R1 was added gene: PIK3R1 was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3R1 were set to SHORT syndrome, OMIM:269880

Monogenic short stature Gene: PIK3R1