Respiratory ciliopathies including non-CF bronchiectasis
Gene: STK36
Single case report.Created: 20 Jan 2019, 5:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber. Only 1 case PMID:28543983Created: 21 Jan 2019, 5:14 p.m.
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: STK36; Suggested initial gene rating: Green; Evidence for inclusion: Single case report but LOF homozygote, with TEM localisation to motile cilia; very strong candidate, extra cases needed to confirm association. Edelbusch et al. Hum Mutat. 2017 Aug;38(8):964-969. ; Evidence for exclusion: Only one reported case (albeit with some reasonably convincing cellular studies); Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Mode of inheritance for gene: STK36 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: stk36 has been classified as Amber List (Moderate Evidence).
Publications for gene: STK36 were set to
Source Expert Review Green was added to STK36. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: STK36 was added gene: STK36 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: STK36 was set to