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| Clefting disorders v0.106 | MN1 | Zornitza Stark Phenotypes for gene: MN1 were changed from Cleft palate to Cleft palate; CEBALID syndrome, MIM# 618774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.105 | MN1 | Zornitza Stark Marked gene: MN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.105 | MN1 | Zornitza Stark Gene: mn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.105 | MN1 | Zornitza Stark Classified gene: MN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.105 | MN1 | Zornitza Stark Gene: mn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.104 | MN1 |
Michelle Torres 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 Added comment: 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 |
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