Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAH1
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: DNAH1; Suggested initial gene rating: Amber; Evidence for inclusion: Only one case of PCD.; Evidence for exclusion: Most homozygote knockouts have spermatogenic failure, no other PCD symptoms. PCD association based on single pair of sisters with unvalidated missense.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Associated with phenotype in OMIM, not in G2P. At least one variant reported in 2 consanguineous Saudi Arabian sisters that segregated with the disease in this family and was not found in controlsCreated: 21 Aug 2017, 10:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Ciliary dyskinesia, primary, 37 617577
Publications
No UK mutations found. So far only connected in one publication of one family with missense mutations (PMID:25927852)Created: 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
Mode of pathogenicity
Other - please provide details in the comments
Mode of inheritance for gene DNAH1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Too new - not yet linked to the PCD mutations publication for gene: DNAH1
Source Expert Review Amber was added to DNAH1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: DNAH1 was added gene: DNAH1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAH1 was set to