Clefting
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
1 review
Helen Brittain (Genomics England Curator)
4 families with mutations to date, one of which had cleftingCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
- EDSMC1
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Bleeding and platelet disorders
- DDG2P
- Intellectual disability
- Osteogenesis imperfecta
- Clefting
- Pneumothorax - familial
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CHST14 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CHST14 was created by ellenmcdonagh