Skeletal dysplasia
Gene: MYCN
Brachydactylies (with extraskeletal manifestations) gp of SD. Several cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: MYCN; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 10:06 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 for gene: MYCN
Source NHS GMS was added to MYCN. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for MYCN were set to Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280
Mode of inheritance for MYCN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
MYCN was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
MYCN was added to Unexplained skeletal dysplasiapanel. Sources:
MYCN was created by sleigh