This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
Gene: CDKN1C
CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Exclusion criteria mentions overgrowth so this gene not relevantCreated: 23 Nov 2016, 10:22 a.m.
Alice Gardham (North West Thames Genetics)
Phenotypes
Beckwith Wiedemann
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Red
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Clefting
- Childhood solid tumours cancer susceptibility
- Differences in sex development
- Embryonal tumour of possible germline origin
- Monogenic short stature
- Sarcoma cancer susceptibility
- Osteogenesis imperfecta
- Segmental overgrowth disorders - Deep sequencing
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Congenital adrenal hypoplasia
- Intellectual disability
- Beckwith-Wiedemann syndrome
- Sarcoma susceptibility
- DDG2P
- IUGR and IGF abnormalities
- Childhood solid tumours
- Fetal anomalies
History Filter Activity
23 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
29 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)CDKN1C was created by alicegardham
29 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)CDKN1C was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN