This Panel is marked as Retired
Multiple Tumours
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)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Chondrosarcoma
- OMIM
- 608177
- Clinvar variants
- Variants in EXT1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Undiagnosed metabolic disorders
- Multiple exostoses
- Kleine-Levin syndrome
- Congenital disorders of glycosylation
- Sarcoma cancer susceptibility
- Intellectual disability
- Likely inborn error of metabolism
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- Skeletal dysplasia
- DDG2P
History Filter Activity
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EXT1 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)EXT1 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)