Respiratory ciliopathies including non-CF bronchiectasis
Gene: ARMC2EnsemblGeneIds (GRCh38): ENSG00000118690
EnsemblGeneIds (GRCh37): ENSG00000118690
ARMC2 is in 1 panel
1 review
Aakash Joshi (St George's Hospital)
PMCID 11954227 identified one individual with a homozygous in ARMC2 which resulted in the known sperm abnormalities, but in addition to this was found to have Primary Ciliary Dyskinesia features with recurrent respiratory infections, bronchitis and rhinosinusitis.
Sources: LiteratureCreated: 19 Oct 2026, 10:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
recurrent respiratory infections; bronchitis; rhinosinusitis; sperm abnormalities
Publications
- PMCID 11954227
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- recurrent respiratory infections
- bronchitis
- rhinosinusitis
- sperm abnormalities
- Clinvar variants
- Variants in ARMC2
- Penetrance
- unknown
- Publications
-
- PMCID 11954227
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Aakash Joshi (St George's Hospital)gene: ARMC2 was added gene: ARMC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC2 were set to PMCID 11954227 Phenotypes for gene: ARMC2 were set to recurrent respiratory infections; bronchitis; rhinosinusitis; sperm abnormalities Penetrance for gene: ARMC2 were set to unknown Review for gene: ARMC2 was set to RED