Clefting disorders
Gene: MN1
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
Phenotypes for gene: MN1 were changed from Cleft palate to Cleft palate; CEBALID syndrome, MIM# 618774
Gene: mn1 has been classified as Amber List (Moderate Evidence).
Gene: mn1 has been classified as Amber List (Moderate Evidence).
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