This Panel is marked as Deleted
Arthrogryposis Victorian Clinical Genetics Services
Gene: CHST14
CHST14 (carbohydrate sulfotransferase 14)
EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- None
- Panels with this gene
-
- Congenital disorders of glycosylation
- Clefting
- Thoracic aortic aneurysm or dissection (GMS)
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)CHST14 was added to Arthrogryposis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)CHST14 was created by Sarah Leigh