Adult solid tumours for rare disease

Gene: EXT1

Green List (high evidence)

EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 17 panels

1 review

Rachel Jones (GSTT)

Green List (high evidence)

Comment when marking as ready: Discussed with HB in clinical team
Created: 17 Apr 2018, 3:40 p.m.
Comment on list classification: see publications in review
Created: 17 Apr 2018, 3:40 p.m.
PMID 10441575 Bovee et al - 4 constitutional mutations in patients with osteochondroma/chondrosarcoma (one or two with no previous history of osteochondroma/multiple 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 29529714 Santos et al - 2 patients with multiple osteochondromas with chondrosarcoma transformation
EXT1 known to cause multiple exostoses/osteochondroma, which have ~5% chance of malignant transformation into chondrosarcoma; good functional characterisation of protein in this condition.
Created: 17 Apr 2018, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chondrosarcoma 215300

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)

EXT1 was added to Adult solid tumours for rare disease panel. Sources: Other

17 Apr 2018, Gel status: 1

Created

Rachel Jones (GSTT)

EXT1 was created by Rachel Jones