Congenital disorders of glycosylation
Gene: CHST14EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 9 variants reported.Created: 19 Dec 2016, 1:29 p.m.
Daniel Ungar (University of York, Department of Biology)
Ehlers–Danlos syndromeCreated: 14 Dec 2016, 12:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- Emory Genetics Laboratory
- Phenotypes
-
- Ehlers-Danlos syndrome, musculocontractural type 1 601776
- CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Osteogenesis imperfecta
- Congenital disorders of glycosylation
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Clefting
- Likely inborn error of metabolism
- Fetal anomalies
- Arthrogryposis
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for CHST14 were set to 26646600
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)CHST14 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)CHST14 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)CHST14 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)CHST14 was created by sleigh