Adult solid tumours 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 is a Green gene on the Adult solid tumours for rare disease (Version 1.21) gene panel, and was added to this panel for review.Created: 28 Mar 2019, 5:02 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- 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
- Likely inborn error of metabolism
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Paroxysmal central nervous system disorders
- Intellectual disability
- Adult solid tumours for rare disease
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma susceptibility
- Osteogenesis imperfecta
- DDG2P
- Adult solid tumours cancer susceptibility
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
2 Aug 2019, Gel status: 2
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to EXT1.
28 Mar 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 Adult solid tumours 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 29529714; 10441575; 23770606 Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300