Segmental overgrowth disorders

Gene: CDKN1C

Green List (high evidence)

CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels

3 reviews

Louise Daugherty (Genomics England Curator)

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.

Publications

Rebecca Foulger (Genomics England curator)

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.

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Beckwith-Wiedemann syndrome, 130650; BWS; Macrocephaly and Overgrowth Syndromes; Beckwith-Wiedemann Syndrome; Hemiohyperplasia, Isolated, 235000; IH

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
  • BWS
  • Macrocephaly and Overgrowth Syndromes
  • Beckwith-Wiedemann Syndrome
  • Hemiohyperplasia, Isolated, 235000
  • IH
OMIM
600856
Clinvar variants
Variants in CDKN1C
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Nov 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

15 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 Nov 2016, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

7 Nov 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

CDKN1C was added to Regional overgrowth disorderspanel. Source: UKGTN

7 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

CDKN1C was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

CDKN1C was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CDKN1C was added to Regional overgrowth disorderspanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CDKN1C was created by rfoulger