| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Macrocephaly_Megalencephaly v0.140 | MYCN | Zornitza Stark Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder (MONDO:0700092), MYCN-related to Megalencephaly-polydactyly syndrome, MIM# 620748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.139 | MYCN | Zornitza Stark reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polydactyly syndrome, MIM# 620748; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.134 | MYCN | Elena Savva Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder with megalencephaly to Neurodevelopmental disorder (MONDO:0700092), MYCN-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.133 | MYCN | Elena Savva Publications for gene: MYCN were set to 30573562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.133 | MYCN | Elena Savva Classified gene: MYCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.133 | MYCN | Elena Savva Gene: mycn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.132 | MYCN | Naomi Baker reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:37710961; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | MYCN | Zornitza Stark Marked gene: MYCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | MYCN | Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | MYCN | Zornitza Stark Classified gene: MYCN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.72 | MYCN | Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.71 | MYCN |
Kristin Rigbye gene: MYCN was added gene: MYCN was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYCN were set to 30573562 Phenotypes for gene: MYCN were set to Neurodevelopmental disorder with megalencephaly Mode of pathogenicity for gene: MYCN was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MYCN was set to RED Added comment: Single report of a de novo missense p.T58M in an individual with a novel megalencephaly syndrome, a Japanese boy with an intellectual disability (ID), distinctive facies, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, postnatal growth retardation, postaxial polydactyly and neuroblastoma. Biochemical and cell biology experiments revealed that the mutation renders MYCN resistant to proteolysis and may improperly potentiate cortical neuron proliferation. MYCN activity regulates granule neuron proliferation through induction of CCND1 and CCND2, and this syndrome was similar to CCND2 gene abnormalities that impart excessive protein stability cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This residue is also frequently mutated in c-Myc in Burkitt’s lymphoma (also due to GoF by gene amplification), consistent with its functions in cell proliferation and differentiation. Sources: Literature |
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