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  3. DNAAF4
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Primary ciliary disorders

Gene: DNAAF4

Green List (high evidence)
DNAAF4 (dynein axonemal assembly factor 4)
EnsemblGeneIds (GRCh38): ENSG00000256061
EnsemblGeneIds (GRCh37): ENSG00000256061
OMIM: 608706, Gene2Phenotype
DNAAF4 is in 7 panels

4 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Louise Daugherty (Genomics England Curator)

New approved gene symbol is DNAAF4
Created: 24 Mar 2017, 10:23 a.m.
Created: 24 Mar 2017, 10:23 a.m.

Panel version: 1.7

Caroline Wright (Genomics England Curator)

Comment on list classification: 2 expert reviewers agree and current diagnostic
Created: 10 May 2016, 9:03 a.m.
Created: 10 May 2016, 9:03 a.m.

Panel version: 0.9

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, 25; {Dyslexia, susceptibility to, 1}

Publications

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

Created: 8 Dec 2015, 4:25 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700
OMIM
608706
Clinvar variants
Variants in DNAAF4
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

DYX1C1 was changed to DNAAF4

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from DYX1C1. Panel: Primary ciliary disorders

10 May 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for DYX1C1 was changed to BIALLELIC, autosomal or pseudoautosomal

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).

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).

16 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DYX1C1 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYX1C1 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN