Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAH8
Comment on list classification: One published case and additional unpublished cases. To remain amber at present pending further evidence.Created: 20 Jan 2019, 5:32 p.m.
Hannah Mitchison is aware of some additional unpublished cases in Spain.Created: 20 Jan 2019, 5:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ciliary dyskinesia
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: downgraded from Green to Amber not enough published cases or other evidence to remain GreenCreated: 21 Jan 2019, 5:12 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: DNAH8; Suggested initial gene rating: Green; Evidence for inclusion: One homozygous LOF mutation in a PCD patient; association not proven but biologically highly likely and a further case would likely prove this (Watson et al. (2014) Hum Mutat 35, 434).; Evidence for exclusion: Doesn't yet formally fulfill the multiple family/functional study criteria but exceptionally strong candidate.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
See Watson et al. Hum Mutat. 2014 Apr;35(4):434-41.Created: 8 Dec 2015, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ciliopathies
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist tag was added to gene: DNAH8.
Gene: dnah8 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene DNAH8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliopathies for gene: DNAH8
Source Expert Review Green was added to DNAH8. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAH8 was added gene: DNAH8 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH8 was set to