Adult solid tumours for rare disease
Gene: EXT2
Comment on list classification: see publications listed in reviewCreated: 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
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
EXT2 was added to Adult solid tumours for rare disease panel. Sources: Other
EXT2 was created by Rachel Jones