Severe microcephaly

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 9 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Expert review plus >3 cases of MYCN mutations causing Feingold syndrome (microcephaly seen in 79% of patients).
Created: 6 Feb 2017, 5:15 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 6 Feb 2017, 5:14 p.m.
Comment on list classification: Updated rating from Red to Green: 1 Green expert review plus >3 cases of MYCN mutations causing Feingold syndrome, which includes microcephaly as a phenotype.
Created: 6 Feb 2017, 5:14 p.m.

emma baple (South West GMC)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Feingold syndrome 1, 164280 (Microcephaly)
OMIM
164840
Clinvar variants
Variants in MYCN
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

6 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

6 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for MYCN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

30 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MYCN was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

30 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MYCN was created by rfoulger