Differences in sex development
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with both phenotypes in OMIM and with Beckwith-Wiedemann syndrome 130650 in G2P / DD. At least six variants reported in Beckwith-Wiedemann syndrome 130650 and five in IMAGE syndrome, 614732.Created: 13 Sep 2016, 11:36 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Other
- Emory Genetics Laboratory
- Phenotypes
-
- IMAGE syndrome, 614732
- Beckwith-Wiedemann syndrome 130650
- Disproportionate Short Stature and Wilms Tumor: Sequencing Panels (Emory)
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Differences in sex development
- Monogenic short stature
- Osteogenesis imperfecta
- Clefting
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Wilms tumour with features suggestive of predisposition
- Congenital adrenal hypoplasia
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- IUGR and IGF abnormalities
- Fetal anomalies
- Beckwith-Wiedemann syndrome
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene CDKN1C were set to IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome 130650; Disproportionate Short Stature and Wilms Tumor: Sequencing Panels (Emory)
Upload gene information
Sarah Leigh (Genomics England Curator)CDKN1C was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Other
clearsources
Sarah Leigh (Genomics England Curator)CDKN1CAll sources for gene: CDKN1C were removed
Added New Source
Sarah Leigh (Genomics England Curator)CDKN1C was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)CDKN1C was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)CDKN1C was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)CDKN1C was added to Disorders of sex developmentpanel. Sources: UKGTN,Other
Created
Sarah Leigh (Genomics England Curator)CDKN1C was created by sleigh