Pneumothorax - familialGene: CHST14
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.
gene: CHST14 was added gene: CHST14 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: CHST14 was set to