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Clefting disorders

Gene: MN1

Amber List (moderate evidence)

MN1 (MN1 proto-oncogene, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000169184
EnsemblGeneIds (GRCh37): ENSG00000169184
OMIM: 156100, Gene2Phenotype
MN1 is in 6 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

I don't know

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: Literature
Created: 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

26 Mar 2021, Gel status: 2

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

26 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mn1 has been classified as Amber List (Moderate Evidence).

26 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mn1 has been classified as Amber List (Moderate Evidence).

25 Mar 2021, Gel status: 0

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