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Mackenzie's Mission_Reproductive Carrier Screening

Gene: DNAI2

Green List (high evidence)

DNAI2 (dynein axonemal intermediate chain 2)
EnsemblGeneIds (GRCh38): ENSG00000171595
EnsemblGeneIds (GRCh37): ENSG00000171595
OMIM: 605483, Gene2Phenotype
DNAI2 is in 11 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
OMIM
605483
Clinvar variants
Variants in DNAI2
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAI2 was added gene: DNAI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)