This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: EXT2
EXT2 (exostosin glycosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
disorganized development of skeletal components gp of SD; many cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exostoses, multiple, type 2 133701
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Exostoses, multiple, type 2 133701
- OMIM
- 608210
- Clinvar variants
- Variants in EXT2
- Penetrance
- None
- Panels with this gene
-
- Congenital disorders of glycosylation
- Multiple exostoses
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- DDG2P
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: EXT2 was added gene: EXT2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 133701