1. Panels
  2. Fetal anomalies
  3. MYCN
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: MYCN

Green List (high evidence)
MYCN (MYCN proto-oncogene, bHLH transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000134323
EnsemblGeneIds (GRCh37): ENSG00000134323
OMIM: 164840, Gene2Phenotype
MYCN is in 12 panels

3 reviews

Elena Savva (Victorian Clinical Genetics Services)

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.
Created: 5 Oct 2023, 1:48 a.m. | Last Modified: 5 Oct 2023, 1:48 a.m.
Panel Version: 1.151
Created: 5 Oct 2023, 1:48 a.m.
Last Modified: 5 Oct 2023, 1:48 a.m.
Panel version: 1.151

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Brachymesophalangy and toe syndactyly, are the most consistent features, present in 100% and 97% of the patients, respectively. Microcephaly present in 89% of patients.
Created: 28 Nov 2021, 11:59 p.m. | Last Modified: 28 Nov 2021, 11:59 p.m.
Panel Version: 0.766

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome 1 (MIM#164280)

Publications

Created: 28 Nov 2021, 11:59 p.m.
Last Modified: 28 Nov 2021, 11:59 p.m.
Panel version: 0.766

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, microcephaly is a key feature.
Sources: Expert list
Created: 31 Aug 2020, 6:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome 1, MIM# 164280; Megalencephaly-polydactyly syndrome, MIM# 620748

Publications

Created: 31 Aug 2020, 6:37 a.m.

Panel version: 1.202

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Expert list
Phenotypes
  • Feingold syndrome 1 (MIM#164280)
  • Megalencephaly-polydactyly syndrome, MIM# 620748
OMIM
164840
Clinvar variants
Variants in MYCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

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

5 Oct 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280) to Feingold syndrome 1 (MIM#164280); eurodevelopmental disorder (MONDO:0700092), MYCN-related

5 Oct 2023, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: MYCN were set to 18470948

29 Nov 2021, 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).

29 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYCN were changed from FEINGOLD SYNDROME TYPE 1 to Feingold syndrome 1 (MIM#164280)

29 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYCN were set to

29 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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