Adult solid tumours for rare disease
Gene: EXT1
EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 16 panels
1 review
Rachel Jones (GSTT)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Chondrosarcoma 215300
- OMIM
- 608177
- Clinvar variants
- Variants in EXT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Multiple exostoses
- Kleine-Levin syndrome
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Osteogenesis imperfecta
- Congenital disorders of glycosylation
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
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