Clefting disorders
Gene: MN1EnsemblGeneIds (GRCh38): ENSG00000169184
EnsemblGeneIds (GRCh37): ENSG00000169184
OMIM: 156100, Gene2Phenotype
MN1 is in 6 panels
1 review
Michelle Torres (Victorian Clinical Genetics Services)
MN1 is associated to CEBALID syndrome (MIM# 618774), and many individuals have been reported with a high-arched palate. So far, 2 individuals have been reported with cleft palate, one with a severe form of the condition, associated with a truncating variant at the C-terminal, which are known to result in gain of function (PMID 31834374). And more recently, a NMD variant, established by RT-PCR and Western Blot, has been identified in a family with cleft palate and conductive hearing loss, but no ID and no other dysmorphic features (PMID 33351070). PMID 33351141 mentions that LoF is likely associated with a milder phenotype despite the high MAF of some NMD in the population, as these are in low complexity region.
Sources: LiteratureCreated: 25 Mar 2021, 11:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft palate
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Cleft palate
- CEBALID syndrome, MIM# 618774
- OMIM
- 156100
- Clinvar variants
- Variants in MN1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MN1 were changed from Cleft palate to Cleft palate; CEBALID syndrome, MIM# 618774
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mn1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mn1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Michelle Torres (Victorian Clinical Genetics Services)gene: MN1 was added gene: MN1 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MN1 were set to 33351141; 31834374; 33351070 Phenotypes for gene: MN1 were set to Cleft palate Mode of pathogenicity for gene: MN1 was set to Other Review for gene: MN1 was set to AMBER