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  2. VACTERL-like phenotypes
  3. MYCN
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VACTERL-like phenotypes

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

Muriel Holder (Clinical Genetics, Guy's Hospital)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen Thomas (Genomics England Curator)

Comment on list classification: Causes Feingold syndrome which has significant clinical overlap with VACTERL.
Created: 27 May 2016, 11:07 a.m.
Created: 27 May 2016, 11:07 a.m.

Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
OMIM
164840
Clinvar variants
Variants in MYCN
Penetrance
Complete
Panels with this gene

History Filter Activity

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MYCN was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory