Ivone Leong Phenotypes for gene: DNAH5 were changed from Bronchiectasis to Bronchiectasis; Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644; situs inversus
Zerin Hyder reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18037990, 11788826; Phenotypes: Primary Ciliary Dyskinesia, Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644, situs inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Catherine Snow Added comment: Comment on list classification: Flagged by expert reviewer that gene should be Green on this panel. Gene has been reviewed Green on the Respiratory ciliopathies including non-CF bronchiectasis for GMS and so updating 100k panel to represent this.