Osteogenesis imperfecta
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
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Panels with this gene
-
- Clefting
- Sarcoma cancer susceptibility
- Differences in sex development
- Intellectual disability
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Wilms tumour with features suggestive of predisposition
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Fetal anomalies
- Congenital adrenal hypoplasia
- Skeletal dysplasia
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Monogenic short stature
- DDG2P
- Beckwith-Wiedemann syndrome
- Childhood solid tumours cancer susceptibility
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CDKN1C.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1C was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory