Skeletal dysplasia
Gene: GPC6
Mesomelic and rhizo-mesomelic dysplasias gp of SD. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Omodysplasia 1 258315
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: GPC6; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:50 p.m.
Publications
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Omodysplasia 1 258315
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Omodysplasia 1 258315 for gene: GPC6
Source NHS GMS was added to GPC6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for GPC6 were set to Omodysplasia 1 258315
Mode of inheritance for GPC6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GPC6 was created by sleigh
GPC6 was added to Unexplained skeletal dysplasiapanel. Sources: