Respiratory ciliopathies including non-CF bronchiectasis
Gene: GAS8
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: GAS8; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Comment when marking as ready: Confirmed DD gene for PCDCreated: 10 May 2016, 9:38 a.m.
Comment on list classification: REF 26387594: Genome-wide exome sequence analyses identified recessive loss-of-function mutations in GAS8 encoding DRC4 in three independent PCD-affected families.Created: 10 May 2016, 9:36 a.m.
None found yetCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Too new - not yet linked to the PCD mutations publication
Publications
Mode of inheritance for gene GAS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to GAS8. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GAS8 was added gene: GAS8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: GAS8 was set to