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Rare multisystem ciliopathy disorders

Gene: DNAH1

Red List (low evidence)
DNAH1 (dynein axonemal heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000114841
EnsemblGeneIds (GRCh37): ENSG00000114841
OMIM: 603332, Gene2Phenotype
DNAH1 is in 5 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment 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
Created: 2 Jul 2019, 2:41 p.m.
Last Modified: 2 Jul 2019, 2:41 p.m.
Panel version: 1.117

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 21 Aug 2017, 11:06 a.m.

Panel version: 1.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spermatogenic failure 18, 617576
  • ?Ciliary dyskinesia, primary, 37, 617577
OMIM
603332
Clinvar variants
Variants in DNAH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DNAH1 were changed from Spermatogenic failure 18 617576 to Spermatogenic failure 18, 617576; ?Ciliary dyskinesia, primary, 37, 617577

2 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dnah1 has been classified as Red List (Low Evidence).

21 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

DNAH1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Literature

21 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DNAH1 was created by sleigh