Laterality disorders and isomerismGene: DNAH1
Comment on list classification: This gene was reviewed by the respiratory working group as part of the GMS. The evidence was considered sufficient only for an amber rating for PCD on the 'Respiratory ciliopathies including non-CF bronchiectasis' panel, as most homozygote knockouts have spermatogenic failure, no other PCD symptoms. PCD association is based on single pair of sisters with unvalidated missense, therefore as the phenotype is the same for both GMS panels, it was decided by the Genomics England clinical team to downgrade from Green to Amber, given it is the same phenotype associated with this gene, as the same GMS test group are overseeing both panels.
Created: 2 Jul 2019, 8:54 a.m. | Last Modified: 2 Jul 2019, 8:54 a.m.
Panel Version: 0.41
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: 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.
Gene: dnah1 has been classified as Amber List (Moderate Evidence).
Source Expert Review Green was added to DNAH1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAH1 was added gene: DNAH1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: DNAH1 was set to