Inherited bleeding disorders
Gene: CHST14EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ehlers-Danlos syndrome, musculocontractural type
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Likely inborn error of metabolism
- Intellectual disability
- Thoracic aortic aneurysm or dissection (GMS)
- Osteogenesis imperfecta
- Ehlers Danlos syndrome with a likely monogenic cause
- Undiagnosed metabolic disorders
- Pneumothorax - familial
- Childhood onset dystonia, chorea or related movement disorder
- Congenital disorders of glycosylation
- Skeletal dysplasia
- Clefting
- DDG2P
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Arthrogryposis
- Bleeding and platelet disorders
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Louise Daugherty (Genomics England Curator)CHST14 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Created
BRIDGE consortium (NIHRBR-RD)CHST14 was created by BRIDGE
Added New Source
BRIDGE consortium (NIHRBR-RD)CHST14 was added to Inherited bleeding disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)