Adult solid tumours for rare disease
Gene: EXT1
Comment when marking as ready: Discussed with HB in clinical teamCreated: 17 Apr 2018, 3:40 p.m.
Comment on list classification: see publications in reviewCreated: 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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
EXT1 was added to Adult solid tumours for rare disease panel. Sources: Other
EXT1 was created by Rachel Jones