Multiple joint dislocations and laxity
Gene: CHST14EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 15 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Established associationCreated: 26 Apr 2022, 3:50 a.m. | Last Modified: 26 Apr 2022, 3:50 a.m.
Panel Version: 0.13308
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Ehlers-Danlos syndrome, musculocontractural type 1 601776
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- None
- 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
Added New Source, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Source Victorian Clinical Genetics Services was added to CHST14. Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 for gene: CHST14
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: CHST14 was added gene: CHST14 was added to Multiple joint dislocations and laxity. Sources: Expert list,Expert Review Green,NHS GMS,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 601776