Skeletal dysplasia
Gene: PIK3R1
>3 cases reported. Short stature is a feature of SHORT syndrome, as well as hyperextensible joints. At least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome 269880
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PIK3R1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported in SHORT syndrome 269880Created: 29 Jul 2016, 12:06 p.m.
Comment on phenotypes: At least one biallelic variant reported in Agammaglobulinemia 7, autosomal recessive 615214 and two in Immunodeficiency 36 616005Created: 29 Jul 2016, 12:04 p.m.
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome 269880
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes SHORT syndrome 269880 for gene: PIK3R1
Source NHS GMS was added to PIK3R1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for PIK3R1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for PIK3R1 were set to SHORT syndrome 269880
This gene has been classified as Green List (High Evidence).
PIK3R1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN
PIK3R1 was created by sleigh
PIK3R1 was added to Unexplained skeletal dysplasiapanel. Sources: