Congenital Disorders of Glycosylation
Gene: CHST14EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The CHST14 gene encodes dermatan-4-sulfotransferase-1 (D4ST1), which catalyzes the 4-O-sulfation of N-acetylgalactosamine (GalNAc) residues in dermatan sulfate.
Well established gene-disease association, multiple families reported.Created: 18 Dec 2020, 7:24 a.m. | Last Modified: 18 Dec 2020, 7:24 a.m.
Panel Version: 0.243
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Muscular dystrophy and myopathy_Paediatric
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Congenital Heart Defect
- Arthrogryposis
- Multiple joint dislocations and laxity
- Mendeliome
- Aortopathy_Connective Tissue Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chst14 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CHST14 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CHST14 was added gene: CHST14 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHST14 was set to Unknown