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  3. CDKN1C
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Fetal anomalies

Gene: CDKN1C

Green List (high evidence)
CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in CDKN1C from fetalexome sequencing inLord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:51 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Point mutations in CDKN1C can cause phenotypes, and be picked up by this panel. OMIM confirms that CDKN1C is paternally-imprinted with preferential expression of the maternal allele.
Created: 24 Mar 2019, 4:30 p.m.
Comment on mode of inheritance: Updated MOI from 'Monoallelic, imprinted status unknown' to 'Monoallelic, paternally imprinted (maternal allele expressed). This reflects DDG2P update which now lists 'imprinted' MOI for both BECKWITH-WIEDEMANN SYNDROME and IMAGe Syndrome. This MOI is taken from the PanelApp 'Imprinted Genes' panel.
Created: 15 Jan 2019, 5:12 p.m.
DDG2P rating in original PAGE list: Confirmed for BECKWITH-WIEDEMANN SYNDROME and Confirmed for IMAGe Syndrome.
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, no MOI or MOP was recorded for IMAGe Syndrome, and Imprinted MOI was recorded for BECKWITH-WIEDEMANN SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Publications

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.183

History Filter Activity

15 Jan 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes IMAGe Syndrome for gene: CDKN1C

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CDKN1C was added gene: CDKN1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME