Skeletal dysplasia

Gene: EXT1

Green List (high evidence)

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 Lester

Created: 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

I don't know

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: green

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 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 215300

Created: 11 Jul 2016, 1:52 p.m.

Comment on mode of inheritance: for phenotype Exostoses, multiple, type 1 133700

Created: 11 Jul 2016, 1:51 p.m.

Green List (high evidence)

Tier 1

Created: 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