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
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Thoracic aortic aneurysm or dissection (GMS)
- Bleeding and platelet disorders
- Skeletal dysplasia
- Clefting
- Likely inborn error of metabolism
- Pneumothorax - familial
- Osteogenesis imperfecta
- Intellectual disability
- Arthrogryposis
- Thoracic aortic aneurysm or dissection
- Childhood onset dystonia, chorea or related movement disorder
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Fetal anomalies
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