Muscular dystrophy and myopathy_Paediatric
Gene: CHST14EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 15 panels
3 reviews
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association. MC-EDS represents a differential diagnosis within the congenital myopathy spectrum of disease. Myopathy also present in the null mouse model.
Sources: Expert listCreated: 10 May 2023, 6:48 a.m.
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not a primary myopathy, but some phenotypic overlap.Created: 17 Jun 2020, 6:53 a.m. | Last Modified: 17 Jun 2020, 6:53 a.m.
Panel Version: 0.219
Crystle Lee (Victorian Clinical Genetics Services)
Patients present with distal arthrogryposis and muscular hypotonia in the neonatal period. >4 families reported
Sources: Expert ReviewCreated: 17 Jun 2020, 1:42 a.m.
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
- Expert list
- Expert Review Amber
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: chst14 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: chst14 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CHST14 was added gene: CHST14 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST14 were set to 26373698; 20842734; 36833362 Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776 Review for gene: CHST14 was set to GREEN gene: CHST14 was marked as current diagnostic