Multiple exostoses
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #133700) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 10:44 a.m. | Last Modified: 29 Dec 2025, 10:44 a.m.
Panel Version: 1.2
EXT1 has been added to the panel for R390 Multiple exostoses with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:51 p.m. | Last Modified: 30 Jun 2023, 2:51 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Exostoses, multiple, type 1, OMIM:133700
- exostoses, multiple, type 1, MONDO:0007585
- OMIM
- 608177
- Clinvar variants
- Variants in EXT1
- Penetrance
- None
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: EXT1 were changed from to Exostoses, multiple, type 1, OMIM:133700; exostoses, multiple, type 1, MONDO:0007585
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: EXT1 was added gene: EXT1 was added to Multiple exostoses. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown