Sarcoma cancer susceptibility
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
Ellen McDonagh (Genomics England Curator)
This gene is Green on the Adult solid tumours for rare disease gene panel (Version 1.21). It was included on a gene list from Clare Turnbull, and so has been added here for review.Created: 3 Apr 2019, 3:21 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Chondrosarcoma 215300
- OMIM
- 608177
- Clinvar variants
- Variants in EXT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Multiple exostoses
- Kleine-Levin syndrome
- DDG2P
- Sarcoma cancer susceptibility
- Osteogenesis imperfecta
- Congenital disorders of glycosylation
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Skeletal dysplasia
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
3 Apr 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: EXT1 was added gene: EXT1 was added to Sarcoma cancer susceptibility. Sources: Other,Expert Review Amber Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXT1 were set to 23770606; 10441575; 29529714 Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300