This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CHST3
CHST3 (carbohydrate sulfotransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000122863
EnsemblGeneIds (GRCh37): ENSG00000122863
OMIM: 603799, Gene2Phenotype
CHST3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000122863
EnsemblGeneIds (GRCh37): ENSG00000122863
OMIM: 603799, Gene2Phenotype
CHST3 is in 11 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Listed In sulphation disorders group of SD. AR. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095
- OMIM
- 603799
- Clinvar variants
- Variants in CHST3
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Multiple Epiphyseal Dysplasia
- Intellectual disability
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
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: CHST3 was added gene: CHST3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095