Ciliary Dyskinesia
Gene: ARMC4

ARMC4 (armadillo repeat containing 4)
EnsemblGeneIds (GRCh38): ENSG00000169126
EnsemblGeneIds (GRCh37): ENSG00000169126
OMIM: 615408, Gene2Phenotype
ARMC4 is in 8 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

New HGNC Gene name - ODAD2 (HGNC:255830)
Created: 6 May 2024, 12:32 a.m. | Last Modified: 6 May 2024, 12:32 a.m.

Panel Version: 1.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
primary ciliary dyskinesia 23 MONDO:0014193

Publications

https://search.clinicalgenome.org/CCID:005698

Created: 6 May 2024, 12:32 a.m.
Last Modified: 6 May 2024, 12:32 a.m.
Panel version: 1.39

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31765523 - 2 families with CDP. Both carry missense, one is homozygous while the other only a single hit detected

PMID: 23849778 - 10 unrelated families with CDP, patients were homozygous for mostly PTCs but also missense.
Created: 4 May 2020, 4:10 a.m. | Last Modified: 4 May 2020, 4:10 a.m.

Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 23 615451

Publications

PMID: 31765523

Created: 4 May 2020, 4:10 a.m.
Last Modified: 4 May 2020, 4:10 a.m.
Panel version: 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 23, MIM# 615451

Tags

new gene name

OMIM

615408

Clinvar variants

Variants in ARMC4

Penetrance

None

Publications

31765523

Panels with this gene