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Prepair 500+

Gene: DNAI1

Green List (high evidence)

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

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

More than 5 unrelated families reported. Congenital onset.
Created: 12 Dec 2024, 2:44 a.m. | Last Modified: 12 Dec 2024, 2:44 a.m.
Panel Version: 1.716

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
OMIM
604366
Clinvar variants
Variants in DNAI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnai1 has been classified as Green List (High Evidence).

30 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNAI1 were changed from Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3) to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400

30 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNAI1 were set to

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: DNAI1 was added gene: DNAI1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)