1. Panels
  2. Hand and foot malformations
  3. MYCN
STRs in panel
Prev Next
Regions in panel
Prev Next

Hand and foot malformations

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polydactyly syndrome, MIM# 620748

Created: 8 Mar 2024, 4:23 a.m.
Last Modified: 8 Mar 2024, 4:23 a.m.
Panel version: 0.72

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Many reports of missense and PTC variants resulting in a LoF, in individuals with Feingold syndrome, of which microcephaly is a key feature.

Only a single report of a de novo missense showing a GoF in an individual with a novel megalencephaly syndrome (megalencephaly, ID, ventriculomegaly, hypoplastic corpus callosum, polydactyly and neuroblastoma)
Created: 21 May 2021, 1:55 a.m. | Last Modified: 21 May 2021, 1:55 a.m.
Panel Version: 0.7652

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome 1

Publications

Created: 21 May 2021, 1:55 a.m.
Last Modified: 21 May 2021, 1:55 a.m.
Panel version: Imported from Mendeliome panel version 0.7652

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 18470948; total of 31 families with Feingold syndrome
PMID: 21224895; total of 8 patients with Feingold syndrome 1

PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function
Created: 20 Apr 2020, 2:32 a.m. | Last Modified: 20 Apr 2020, 2:32 a.m.
Panel Version: 0.2361

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome 1; megalencephaly; ventriculomegaly; hypoplastic corpus callosum; intellectual disability; polydactyly; neuroblastoma

Publications

Created: 20 Apr 2020, 2:32 a.m.
Last Modified: 20 Apr 2020, 2:32 a.m.
Panel version: Imported from Mendeliome panel version 0.2361

Details

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

History Filter Activity

8 Mar 2024, 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).

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 (Microcephaly-oculo-digito-esophageal-duodenal) 164280 to Megalencephaly-polydactyly syndrome, MIM# 620748; Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MYCN was added gene: MYCN was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYCN were set to Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280