Segmental overgrowth disordersGene: CDKN1C
Should be noted that CDKN1C is ab example of allelic heterogeneity associated with opposite syndromes. Loss of function mutations in the maternal CDKN1C gene cause Beckwith-Wiedemann syndrome (BWS) and overgrowth, while missense mutations in the PCNA-binding motif are associated with IMAGe syndrome (Intrauterine Growth retardation, Metaphyseal Dysplasia, Adrenal Insufficiency, Genital abnormalities) PMID: 25258553
Created: 3 Apr 2017, 9:56 a.m.
Comment when marking as ready: CDKN1C rated as green based on expert review and confirmed DD gene.
Created: 15 Nov 2016, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Beckwith-Wiedemann syndrome, 130650; BWS; Macrocephaly and Overgrowth Syndromes; Beckwith-Wiedemann Syndrome; Hemiohyperplasia, Isolated, 235000; IH
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
CDKN1C was added to Regional overgrowth disorderspanel. Source: UKGTN
CDKN1C was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory
CDKN1C was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen
CDKN1C was added to Regional overgrowth disorderspanel. Sources: Expert Review
CDKN1C was created by rfoulger