Clefting
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
Louise Daugherty (Genomics England Curator)
Comment on publications: clefting observed in three unrelated casesCreated: 31 May 2017, 11:51 a.m.
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
BECKWITH-WIEDEMANN SYNDROME; BWS
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Phenotypes
-
- BECKWITH-WIEDEMANN SYNDROME
- BWS
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Segmental overgrowth disorders - Deep sequencing
- Differences in sex development
- Sarcoma cancer susceptibility
- Embryonal tumour of possible germline origin
- Congenital adrenal hypoplasia
- Osteogenesis imperfecta
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Sarcoma susceptibility
- Clefting
- Monogenic short stature
- Fetal anomalies
- Beckwith-Wiedemann syndrome
- IUGR and IGF abnormalities
- Childhood solid tumours
- DDG2P
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 4
Set publications
Louise Daugherty (Genomics England Curator)Publications for CDKN1C were set to 20503313
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1C was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CDKN1C was created by ellenmcdonagh