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BabyScreen+ newborn screening

Gene: MYCN

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome 1, MIM# 164280

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong. Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.

Severity: mild to moderate

Age of onset: congenital

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude
Created: 4 Oct 2022, 7:20 a.m. | Last Modified: 4 Oct 2022, 7:20 a.m.
Panel Version: 0.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Feingold syndrome

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Feingold syndrome 1, MIM# 164280
OMIM
164840
Clinvar variants
Variants in MYCN
Penetrance
None
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mycn has been classified as Red List (Low Evidence).

6 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYCN were changed from Feingold syndrome to Feingold syndrome 1, MIM# 164280

6 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mycn has been classified as Red List (Low Evidence).

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYCN were set to Feingold syndrome