Adult solid tumours for rare disease

Gene: EXT2

Green List (high evidence)

EXT2 (exostosin glycosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels

1 review

Rachel Jones (GSTT)

Green List (high evidence)

Comment on list classification: see publications listed in review
Created: 17 Apr 2018, 3:39 p.m.
PMID 27636706 Heddar et al - two members of the same family presenting with chondrosarcoma with no obvious signs of multiple osteochondromas/exostoses
PMID 23770606 Tarpey et al - 3 germline mutations identified in EXT1 or EXT2 in patients with chondrosarcoma (does not comment how many in each gene)
PMID 7726168 Hecht et al - constitutional chromosomal deletion of area including EXT2 (prior to gene identification) in family with multiple osteochondromas with chondrosarcoma transformation
PMID 29529714 Santos et al - germline mutation of EXT2 in 2 patients with multiple osteochondromas with chondrosarcoma transformation
EXT2 known to cause multiple exostoses/osteochondroma, which have ~5% chance of malignant transformation into chondrosarcoma; good functional characterisation of EXT1/2 complex in this condition.
Created: 17 Apr 2018, 3:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exostoses, multiple, type 2 133701

Publications

History Filter Activity

17 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Rachel Jones (GSTT)

This gene has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Rachel Jones (GSTT)

This gene has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 1

Added New Source

Rachel Jones (GSTT)

EXT2 was added to Adult solid tumours for rare disease panel. Sources: Other

17 Apr 2018, Gel status: 1

Created

Rachel Jones (GSTT)

EXT2 was created by Rachel Jones