Polydactyly
Gene: MYCNEnsemblGeneIds (GRCh38): ENSG00000134323
EnsemblGeneIds (GRCh37): ENSG00000134323
OMIM: 164840, Gene2Phenotype
MYCN is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polydactyly syndrome, MIM# 620748
Naomi Baker (Victorian Clinical Genetics Services)
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.
Sources: LiteratureCreated: 5 Oct 2023, 1:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder (MONDO:0700092), MYCN-related
Publications
- PMID:37710961
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Megalencephaly-polydactyly syndrome, MIM# 620748
- OMIM
- 164840
- Clinvar variants
- Variants in MYCN
- Penetrance
- None
- Publications
-
- PMID:37710961
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder (MONDO:0700092), MYCN-related to Megalencephaly-polydactyly syndrome, MIM# 620748
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: mycn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: mycn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: mycn has been removed from the panel.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Naomi Baker (Victorian Clinical Genetics Services)gene: MYCN was added gene: MYCN was added to Polydactyly. Sources: Literature Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYCN were set to PMID:37710961 Phenotypes for gene: MYCN were set to Neurodevelopmental disorder (MONDO:0700092), MYCN-related Mode of pathogenicity for gene: MYCN was set to Other Review for gene: MYCN was set to GREEN