Segmental overgrowth disorders - Deep sequencing
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 21 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: 25258553Created: 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)
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
-
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Clefting
- Differences in sex development
- Monogenic short stature
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Wilms tumour with features suggestive of predisposition
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Congenital adrenal hypoplasia
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Intellectual disability
- Embryonal tumour of possible germline origin
- IUGR and IGF abnormalities
- DDG2P
- Beckwith-Wiedemann syndrome
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
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)
Added New Source
Rebecca Foulger (Genomics England curator)CDKN1C was added to Regional overgrowth disorderspanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)CDKN1C was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Rebecca Foulger (Genomics England curator)CDKN1C was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)CDKN1C was added to Regional overgrowth disorderspanel. Sources: Expert Review
Created
Rebecca Foulger (Genomics England curator)CDKN1C was created by rfoulger