Microcephaly
Gene: MYCN
MYCN (MYCN proto-oncogene, bHLH transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000134323
EnsemblGeneIds (GRCh37): ENSG00000134323
OMIM: 164840, Gene2Phenotype
MYCN is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000134323
EnsemblGeneIds (GRCh37): ENSG00000134323
OMIM: 164840, Gene2Phenotype
MYCN is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, microcephaly is a key feature.
Sources: Expert listCreated: 31 Aug 2020, 6:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Feingold syndrome 1, MIM# 164280
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Feingold syndrome 1, MIM# 164280
- OMIM
- 164840
- Clinvar variants
- Variants in MYCN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
31 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mycn has been classified as Green List (High Evidence).
31 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mycn has been classified as Green List (High Evidence).
31 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYCN was added gene: MYCN was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYCN were set to 18470948 Phenotypes for gene: MYCN were set to Feingold syndrome 1, MIM# 164280