This Panel is marked as Retired
Kyphoscoliotic Ehlers-Danlos syndrome
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene was added by expert and rated green. Added to the panel as green due to expert review and additional evidence; it is a confirmed DD gene for Ehlers-Danlos syndrome musculocontractural type and there are more than 3 cases/families reported in OMIM from different ethnicities and for different reported pathogenic variants.Created: 6 Jun 2016, 3:19 p.m.
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ehlers-Danlos syndrome, musculocontractural type 1
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Thoracic aortic aneurysm or dissection (GMS)
- Bleeding and platelet disorders
- Intellectual disability
- Clefting
- Likely inborn error of metabolism
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood onset dystonia, chorea or related movement disorder
- Pneumothorax - familial
- Osteogenesis imperfecta
- Thoracic aortic aneurysm or dissection
- Skeletal dysplasia
- Inherited bleeding disorders
- DDG2P
- Fetal anomalies
History Filter Activity
6 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1
6 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
26 May 2016, Gel status: 0
Added New Source
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)CHST14 was added to Kyphoscoliotic Ehlers-Danlos syndromepanel. Sources: Expert Review,Literature
26 May 2016, Gel status: 0
Created
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)CHST14 was created by [email protected]