Pneumothorax - familial
Gene: CHST14
CHST14 (carbohydrate sulfotransferase 14)
EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 17 panels
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CHST14; Suggested initial gene rating: Amber; Evidence for inclusion: EDS with neonatal pneumothorax.; Evidence for exclusion: Highly syndromic condition, fits within the musculoskeletal EDS category.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 6 Dec 2018, 2:37 p.m.
Details
- Sources
-
- NHS GMS
- OMIM
- 608429
- Clinvar variants
- Variants in CHST14
- Penetrance
- None
- Panels with this gene
-
- Congenital disorders of glycosylation
- Clefting
- Thoracic aortic aneurysm or dissection (GMS)
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- Intellectual disability
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
History Filter Activity
6 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CHST14 was added gene: CHST14 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: CHST14 was set to