This Panel is marked as Internal
Tumour predisposition - adult onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Chondrosarcoma 215300
- OMIM
- 608177
- Clinvar variants
- Variants in EXT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Multiple exostoses
- Kleine-Levin syndrome
- Skeletal dysplasia
- Sarcoma cancer susceptibility
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: EXT1 was added gene: EXT1 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXT1 were set to 23770606; 29529714; 10441575 Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300