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Rare multisystem ciliopathy disorders

Gene: DNAAF4

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

2 reviews

Louise Daugherty (Genomics England Curator)

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

Panel version: 1.22

Alice Gardham (Genomics England)

Comment when marking as ready: primary ciliary dyskinesia not included on this panel
Created: 23 Jan 2017, 3:56 p.m.
Created: 23 Jan 2017, 3:56 p.m.

Panel version: 0.429

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
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: 1

Changed Gene Name

GEL ()

DYX1C1 was changed to DNAAF4

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from DYX1C1. Panel: Rare multisystem ciliopathy disorders

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

DYX1C1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene DYX1C1 were set to Ciliary dyskinesia, primary, 25, 615482 {Dyslexia, susceptibility to, 1}, 127700

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DYX1C1 was created by ellenmcdonagh

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DYX1C1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list