MYCN

MYCN proto-oncogene, bHLH transcription factor
OMIM: 164840, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green MYCN in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megalencephaly-polydactyly syndrome, MIM# 620748

Green MYCN in Mendeliome


Version 2.0

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), MYCN-related
  • Feingold syndrome 1 MIM#164280

Green MYCN in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Feingold syndrome 1, MIM# 164280

Green MYCN in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megalencephaly-polydactyly syndrome, MIM# 620748

Green MYCN in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MYCN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Feingold syndrome 1 MIM#164280
  • Megalencephaly-polydactyly syndrome, MIM# 620748

Green MYCN in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280

Green MYCN in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Feingold syndrome

Red MYCN in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • cleft lip with or without cleft palate, MONDO:0016034

Green MYCN in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

3 reviews 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

Green MYCN in Fetal anomalies


Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Expert list
Phenotypes
  • Feingold syndrome 1 (MIM#164280)
  • Megalencephaly-polydactyly syndrome, MIM# 620748

Red MYCN in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Feingold syndrome 1, MIM# 164280