Fetal anomalies
Gene: DNAAF3

DNAAF3 (dynein axonemal assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000167646
EnsemblGeneIds (GRCh37): ENSG00000167646
OMIM: 614566, Gene2Phenotype
DNAAF3 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on phenotypes: 'PRIMARY CILIARY DYSKINEASIA' phenotype comes from DD-Gene2Phenotype. Added in MIM:606763 so the correct spelling is present for search purposes.
Created: 30 Apr 2019, 1:17 p.m.

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for PRIMARY CILIARY DYSKINEASIA
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

PRIMARY CILIARY DYSKINEASIA
Ciliary dyskinesia, primary, 2, MIM:606763

OMIM

614566

Clinvar variants

Variants in DNAAF3

Penetrance

None

Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: DNAAF3 was added gene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA

Fetal anomalies Gene: DNAAF3