Skeletal dysplasia
Gene: TRIP11
Severe spondylodysplastic dysplasias gp of SD, green - multiple recessive LOF mutations.; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achondrogenesis, type IA 200600
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: TRIP11; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:52 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:13 p.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Achondrogenesis, type IA 200600
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Achondrogenesis, type IA 200600 for gene: TRIP11
Source NHS GMS was added to TRIP11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for TRIP11 were set to Achondrogenesis, type IA 200600
Mode of inheritance for TRIP11 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TRIP11 was added to Unexplained skeletal dysplasiapanel. Sources:
TRIP11 was created by sleigh