Skeletal dysplasia
Gene: EXT1
Acromelic dysplasias gp of SD, disorganized development of skeletal components gp of SD. TRPS2 is a contiguous deletion syndrome on 8q24.1 involving loss of both TRPS1 and EXT1. Several cases of both disorders reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exostoses, multiple, type 13370; trichorhinophalangeal syndrome type 2 -150230
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: EXT1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:35 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 11 Jul 2016, 1:52 p.m.
Comment on phenotypes: Variants also reported in Chondrosarcoma 215300Created: 11 Jul 2016, 1:52 p.m.
Comment on mode of inheritance: for phenotype Exostoses, multiple, type 1 133700Created: 11 Jul 2016, 1:51 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Chondrosarcoma 215300; Exostoses, multiple, type 1 133700
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes trichorhinophalangeal syndrome type 2 -150230; Exostoses, multiple, type 13370 for gene: EXT1
Source NHS GMS was added to EXT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for EXT1 were set to Exostoses, multiple, type 1 133700
Mode of inheritance for EXT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
EXT1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
EXT1 was added to Unexplained skeletal dysplasiapanel. Sources:
EXT1 was created by sleigh