Pneumothorax - familial

Gene: CHST14

Red List (low evidence)

CHST14 (carbohydrate sulfotransferase 14)
EnsemblGeneIds (GRCh38): ENSG00000169105
EnsemblGeneIds (GRCh37): ENSG00000169105
OMIM: 608429, Gene2Phenotype
CHST14 is in 18 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

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 given
Created: 6 Dec 2018, 2:37 p.m.

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