Rare multisystem ciliopathy disorders
Gene: DNAI1

DNAI1 (dynein axonemal intermediate chain 1)
EnsemblGeneIds (GRCh38): ENSG00000122735
EnsemblGeneIds (GRCh37): ENSG00000122735
OMIM: 604366, Gene2Phenotype
DNAI1 is in 11 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: primary ciliary dyskinesia not included on this panel
Created: 23 Jan 2017, 3:54 p.m.

Created: 23 Jan 2017, 3:54 p.m.

Panel version: 0.429

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted because this is green on the Primary ciliary disorders gene panel.
Created: 28 Nov 2016, 10:45 a.m.

Created: 28 Nov 2016, 10:45 a.m.

Panel version: 0.341

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400

OMIM

604366

Clinvar variants

Variants in DNAI1

Penetrance

Complete

Panels with this gene

History Filter Activity

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).

28 Nov 2016, Gel status: 1