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Intellectual disability - microarray and sequencing v5.331 MYCN Sarah Leigh Publications for gene: MYCN were set to 37710961; 21224895; 8470948; 16906565; 18671284; 15821734; 18470948
Intellectual disability - microarray and sequencing v5.330 MYCN Sarah Leigh Added comment: Comment on mode of pathogenicity: Gain-of-function MYCN variants have been reported (PMID: 30573562; 37710961) where the phenotypic features are to an extent opposite the phenotype of Feingold syndrome 1 (OMIM:164280) caused by loss-of-function MYCN variants.
Intellectual disability - microarray and sequencing v5.330 MYCN Sarah Leigh Mode of pathogenicity for gene: MYCN was changed from to None
Intellectual disability - microarray and sequencing v5.329 MYCN Sarah Leigh Publications for gene: MYCN were set to 21224895; 8470948; 16906565; 18671284; 15821734; 18470948
Intellectual disability - microarray and sequencing v5.315 MYCN Zornitza Stark edited their review of gene: MYCN: Added comment: PMID 37710961: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals) and somewhat opposing phenotype cf Feingold. Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.; Changed publications to: 21224895, 8470948, 37710961; Changed phenotypes to: Feingold syndrome 1, Megalencephaly, intellectual disability, Neurodevelopmental disorder (MONDO:0700092), MYCN-related
Intellectual disability - microarray and sequencing v3.1212 MYCN Ivone Leong Publications for gene: MYCN were set to 21224895; 8470948
Intellectual disability - microarray and sequencing v3.1211 MYCN Ivone Leong Phenotypes for gene: MYCN were changed from Feingold syndrome, 164280; FEINGOLD SYNDROME TYPE 1 to Feingold syndrome 1, OMIM:164280
Intellectual disability - microarray and sequencing v3.1210 MYCN Ivone Leong Publications for gene: MYCN were set to
Intellectual disability - microarray and sequencing v3.1120 MYCN Zornitza Stark reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21224895, 8470948; Phenotypes: Feingold syndrome 1, Megalencephaly, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability - microarray and sequencing v2.468 MYCN Louise Daugherty Source Victorian Clinical Genetics Services was added to MYCN.
Intellectual disability - microarray and sequencing MYCN BRIDGE consortium edited their review of MYCN
Intellectual disability - microarray and sequencing MYCN BRIDGE consortium edited their review of MYCN
Intellectual disability - microarray and sequencing MYCN BRIDGE consortium reviewed MYCN