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  3. DNAI2
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Ductal plate malformation

Gene: DNAI2

Red List (low evidence)
DNAI2 (dynein axonemal intermediate chain 2)
EnsemblGeneIds (GRCh38): ENSG00000171595
EnsemblGeneIds (GRCh37): ENSG00000171595
OMIM: 605483, Gene2Phenotype
DNAI2 is in 10 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.
Created: 12 Nov 2018, 1:55 p.m.

Panel version: 0.26

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus (612444)
OMIM
605483
Clinvar variants
Variants in DNAI2
Penetrance
None
Panels with this gene

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 DNAI2. 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: DNAI2 was added gene: DNAI2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory Mode of inheritance for gene: DNAI2 was set to Unknown Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus (612444)