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  3. DNAI2
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Heterotaxy

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Created: 18 Oct 2020, 9:44 a.m. | Last Modified: 18 Oct 2020, 9:44 a.m.
Panel Version: 0.140

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444

Publications

Created: 18 Oct 2020, 9:44 a.m.
Last Modified: 18 Oct 2020, 9:44 a.m.
Panel version: 0.140

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444
OMIM
605483
Clinvar variants
Variants in DNAI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnai2 has been classified as Green List (High Evidence).

18 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAI2 were changed from to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444

18 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAI2 were set to

18 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNAI2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAI2 was added gene: DNAI2 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DNAI2 was set to Unknown