Rare multisystem ciliopathy disorders
Gene: DNAH1Comment on list classification: Downgraded Spermatogenic failure gene DNAH1 from Green to Red on the Rare Multisystem ciliopathies panel on advice from the Genomics England clinical team: by definition, the phenotype is not a multisystem ciliopathy. DNAH1 also has a ciliary dyskinesia phenotype (MIM:617577) but there is limited evidence for this.Created: 2 Jul 2019, 2:41 p.m. | Last Modified: 2 Jul 2019, 2:41 p.m.
Panel Version: 1.117
Associated with phenotype in OMIM, not in G2P. At least 5 variants reported in at least 8 unrelated cases. Segregation was demonstrated where possible and supportive in vitro evidence was also provided.Created: 21 Aug 2017, 11:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spermatogenic failure 18 617576
Publications
Phenotypes for gene: DNAH1 were changed from Spermatogenic failure 18 617576 to Spermatogenic failure 18, 617576; ?Ciliary dyskinesia, primary, 37, 617577
Gene: dnah1 has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
DNAH1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Literature
DNAH1 was created by sleigh