ClinGen Dosage Sensitivity Curation Page
MYCN
- Curation Status: Complete
- id: ISCA-23687
- Date last evaluated: 2017-07-12
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about MYCN at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/4613
- OMIM: https://omim.org/entry/602585
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYCN%5Bgenesymbol%5D
- ClinGen Haploinsufficiency Score: 3
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.914
- See related regions:
- 2p24.3 MYCN-DDX1 duplication region
Select assembly:
(NC_000002.11)
(NC_000002.12)
- Haploinsufficiency score: 3
- Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
- Haploinsufficiency Phenotype: FEINGOLD SYNDROME 1; FGLDS1
| PubMed ID | Description |
|---|---|
| 16906565 | Teszas et al. (2006): Identified a nonsense mutation in MYCN in a proband with Feingold syndrome. The mutation was inherited from the mother (and also present in the grandmother), both of whom had less severe clinical phenotypes. |
| 18671284 | Blaumeiser et al. (2008): Identified a de novo heterozygous 1-bp duplication in MYCN in a proband with Feingold syndrome. The mutation was predicted to result in premature truncation and nonsense-mediated mRNA decay. |
| 18470948 | Marcelis et al. (2008): Identified a nonsense mutation in MYCN that segregated with Feingold syndrome. |
Haploinsufficiency phenotype comments:
MYCN haploinsufficiency is causative for Feingold syndrome.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Triplosensitivity phenotype comment:
This review pertains to evidence linking focal duplication of MYCN to clinical phenotypes. Due to the presence of other genes in reported duplications, gene-level triplosensitivity is currently scored as 0. Please see the linked region for further evidence relating to the MYCN-DDX1 recurrent duplication region.