Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAH9Comment on list classification: Recent publication Fassad et al Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
https://www.sciencedirect.com/science/article/pii/S0002929718303689
reports two unrelated probands and a sibling pair with biallelic variants in DNAH9, as well as functional evidence that DNAH9 mutaitons affect ciliary function.Created: 20 Jan 2019, 5:56 p.m.
Comment on publications: From From GMS Respiratory Specialist Test Group webex call 18th Jan 2019. Added publication to support gene-disease association and rating of this gene to Green. 4 cases from 3 families & functional data.Created: 21 Jan 2019, 5:06 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: DNAH9; Suggested initial gene rating: Amber; Evidence for inclusion: Dynein arm gene (biological link to motile cilia); Evidence for exclusion: No association yet with PCD.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Mode of inheritance for gene: DNAH9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to
Phenotypes for gene: DNAH9 were changed from Primary c to Primary ciliary dyskinesia
Phenotypes for gene: DNAH9 were changed from to Primary c
Gene: dnah9 has been classified as Green List (High Evidence).
Source Expert Review Amber was added to DNAH9. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: DNAH9 was added gene: DNAH9 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH9 was set to