Ductal plate malformation
Gene: DNAH5
DNAH5 (dynein axonemal heavy chain 5)
EnsemblGeneIds (GRCh38): ENSG00000039139
EnsemblGeneIds (GRCh37): ENSG00000039139
OMIM: 603335, Gene2Phenotype
DNAH5 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000039139
EnsemblGeneIds (GRCh37): ENSG00000039139
OMIM: 603335, Gene2Phenotype
DNAH5 is in 12 panels
1 review
Ivone Leong (Genomics England Curator)
Red gene on Rare ciliopathy panel. Demoted from amber to red as insufficient evidenceCreated: 12 Nov 2018, 1:55 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Ciliary dyskinesia, primary, 3, with or without situs inversus (608644)
- OMIM
- 603335
- Clinvar variants
- Variants in DNAH5
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Non-CF bronchiectasis
- Respiratory ciliopathies including non-CF bronchiectasis
- Paediatric disorders - additional genes
- Ductal plate malformation
- DDG2P
- Familial pulmonary fibrosis
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
30 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Red gene on Rare ciliopathy pa
12 Nov 2018, Gel status: 1
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to DNAH5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
6 Nov 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DNAH5 was added gene: DNAH5 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus (608644)