Laterality disorders and isomerismGene: DNAH5
On CGGL Royal Brompton panel. Bi-allelic variants detected in mutiple PCD patients with and without situs inversus. Strong literature evidence.
Created: 25 Nov 2019, 10:26 p.m. | Last Modified: 25 Nov 2019, 10:26 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 608644 Ciliary dyskinesia, primary, 3, with or without situs inversus
Variants in this GENE are reported as part of current diagnostic practice
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: DNAH5; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.
Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Publications for gene: DNAH5 were set to
Mode of inheritance for gene: DNAH5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to DNAH5. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAH5 was added gene: DNAH5 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAH5 was set to