Arthrogryposis
Gene: CHST14EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Ehlers-Danlos syndrome, musculocontractural type 1 601776
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Thoracic aortic aneurysm or dissection (GMS)
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Clefting
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
History Filter Activity
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)CHST14 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Upload gene information
Alice Gardham (Genomics England)CHST14 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776
Set publications
Alice Gardham (Genomics England)Publications for CHST14 were set to 20004762, 20842734,
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)CHST14 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CHST14 was added to Arthrogryposispanel. Sources: Expert list