Respiratory ciliopathies including non-CF bronchiectasis
Gene: MNS1
MNS1 (meiosis specific nuclear structural 1)
EnsemblGeneIds (GRCh38): ENSG00000138587
EnsemblGeneIds (GRCh37): ENSG00000138587
OMIM: 610766, Gene2Phenotype
MNS1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000138587
EnsemblGeneIds (GRCh37): ENSG00000138587
OMIM: 610766, Gene2Phenotype
MNS1 is in 3 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive MNS1 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:005401.
Sources: ClinGenCreated: 15 Jul 2025, 6:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- ClinGen
- Phenotypes
-
- Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948
- Tags
- OMIM
- 610766
- Clinvar variants
- Variants in MNS1
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Jul 2025, Gel status: 1
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag disputed tag was added to gene: MNS1.
15 Jul 2025, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: MNS1 was added gene: MNS1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MNS1 were set to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948 Review for gene: MNS1 was set to RED