Primary ciliary disorders

Gene: DNAH5

Green List (high evidence)

DNAH5 (dynein axonemal heavy chain 5)
EnsemblGeneIds (GRCh38): ENSG00000039139
EnsemblGeneIds (GRCh37): ENSG00000039139
OMIM: 603335, Gene2Phenotype
DNAH5 is in 13 panels

4 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644

Variants in this GENE are reported as part of current diagnostic practice

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Sufficient cases for causation for PCD +/- laterality. Current evidence for structural cardiac involvement is from a mouse model (see listed PMID)
Created: 4 Jul 2017, 7:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644; situs inversus

Publications

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Reviewed with team while reviewing non-CF Bronchiectasis
Created: 10 May 2016, 8:47 a.m.

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

UK mutations reported
Created: 8 Dec 2015, 4:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 3, with or without situs inversus

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
OMIM
603335
Clinvar variants
Variants in DNAH5
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAH5 was added to Primary ciliary disorderspanel. Sources: Eligibility statement prior genetic testing

16 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNAH5 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAH5 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNAH5 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAH5 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

16 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNAH5 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAH5 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAH5 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory