GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: EXT1

EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 16 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exostoses, multiple, type 13370; trichorhinophalangeal syndrome type 2 -150230

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

trichorhinophalangeal syndrome type 2 -150230
Exostoses, multiple, type 13370

OMIM

608177

Clinvar variants

Variants in EXT1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: EXT1 was added gene: EXT1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT1 were set to trichorhinophalangeal syndrome type 2 -150230; Exostoses, multiple, type 13370

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: EXT1