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Prepair 1000+

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Severity can be comparable to CF.
Created: 16 Jan 2025, 10:57 p.m. | Last Modified: 16 Jan 2025, 10:57 p.m.
Panel Version: 1.1080

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Clare Hunt (Victorian Clinical Genetics Services)

I don't know

Primary ciliary dyskinesia associated with chronic sinusitis and bronchiectasis. Around half can present with situs invertus and randomization of left/right body asymmetry. Males can have subfertility, due to impaired sperm (flagella) tail function.

From Loges et al 2008 (PMID:18950741) they report homozygous loss-of-function DNAI2 mutations (IVS11+1G > A) in four individuals from a family with PCD and ODA defects. Further mutational screening of 105 unrelated PCD families detected two distinct homozygous mutations, including a nonsense (c.787C > T) and a splicing mutation (IVS3-3T > G) resulting in out-of-frame transcripts.

? severity. For formal review for suitability to be on p1000+.
Gene is included on babyscreen+, fetal anomalies and according to was on MM gene list,
Created: 8 Jan 2025, 5:52 a.m. | Last Modified: 8 Jan 2025, 5:52 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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, MIM#612444
OMIM
605483
Clinvar variants
Variants in DNAI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, 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).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAI2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) for gene: DNAI2

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. 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)