Genomic imprinting
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human)Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26
Ellen McDonagh (Genomics England Curator)
The regulatory region of CDKN1C is >100kb and includes elements subject to parent-of-origin specific regulation. Indels and rearrangements of the region are well-established causes of disease, associated in some but not all cases with alterations of DNA methylation marks.http://www.imprinting-disorders.eu/?page_id=21;http://www.imprinting-disorders.eu/?page_id=1112 This is (a) gene in imprinted regions, in which point mutations / indels are associated with disease (e.g. CDKN1C); (b) gene for which alteration of effective copy number is associated with disease (though mutations in the transcript are currently not identified)Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
From the Sotos syndrome gene panel
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Literature
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Phenotypes resulting from gene over expression: IMAGE syndrome
- Silver-Russell Syndrome
- Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
- Affected tissue: all
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Publications
- 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
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)Source Literature was added to CDKN1C. Publications for gene CDKN1C were updated from PMID: 8841187; 20503313; 10424811; [15372379; 19843502; 23511928; 22205991] to 23511928; 20503313; 22205991]; 10424811; 19843502; 30794780; PMID: 8841187; [15372379; http://igc.otago.ac.nz/home.html
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)CDKN1C was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1C was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain