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Fetal anomalies v2.0 MYCN Gene migrated from ENSG00000134323 to ENSG00000134323 (gene set migration)
Fetal anomalies v1.203 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280); Neurodevelopmental disorder (MONDO:0700092), MYCN-related to Feingold syndrome 1 (MIM#164280); Megalencephaly-polydactyly syndrome, MIM# 620748
Fetal anomalies v1.202 MYCN Zornitza Stark edited their review of gene: MYCN: Changed phenotypes: Feingold syndrome 1, MIM# 164280, Megalencephaly-polydactyly syndrome, MIM# 620748
Fetal anomalies v1.152 MYCN Elena Savva Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280); eurodevelopmental disorder (MONDO:0700092), MYCN-related to Feingold syndrome 1 (MIM#164280); Neurodevelopmental disorder (MONDO:0700092), MYCN-related
Fetal anomalies v1.151 MYCN Elena Savva Added comment: Comment on phenotypes: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals). 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.
Fetal anomalies v1.151 MYCN Elena Savva Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280) to Feingold syndrome 1 (MIM#164280); eurodevelopmental disorder (MONDO:0700092), MYCN-related
Fetal anomalies v1.150 MYCN Elena Savva Publications for gene: MYCN were set to 18470948
Fetal anomalies v0.787 MYCN Zornitza Stark Marked gene: MYCN as ready
Fetal anomalies v0.787 MYCN Zornitza Stark Gene: mycn has been classified as Green List (High Evidence).
Fetal anomalies v0.787 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from FEINGOLD SYNDROME TYPE 1 to Feingold syndrome 1 (MIM#164280)
Fetal anomalies v0.786 MYCN Zornitza Stark Publications for gene: MYCN were set to
Fetal anomalies v0.785 MYCN Zornitza Stark Mode of inheritance for gene: MYCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.766 MYCN Daniel Flanagan reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18470948; Phenotypes: Feingold syndrome 1 (MIM#164280); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1