Adult solid tumours for rare disease
Gene: EXT2
EXT2 (exostosin glycosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels
1 review
Rachel Jones (GSTT)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Exostoses, multiple, type 2 133701
- OMIM
- 608210
- Clinvar variants
- Variants in EXT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Multiple exostoses
- Congenital disorders of glycosylation
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Likely inborn error of metabolism
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- Fetal anomalies
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