Ductal plate malformation

Gene: DNAAF1

Red List (low evidence)

DNAAF1 (dynein axonemal assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000154099
EnsemblGeneIds (GRCh37): ENSG00000154099
OMIM: 613190, Gene2Phenotype
DNAAF1 is in 11 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Red gene on Rare ciliopathy panel. Demoted from amber to red as insufficient evidence
Created: 12 Nov 2018, 1:55 p.m.

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 DNAAF1. 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: DNAAF1 was added gene: DNAAF1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13 (613193)