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Research panel - Severe Paediatric Disorders

Gene: CDKN1C

Green List (high evidence)
CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 21 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CDKN1C; Recommended initial gene rating: Green List (high evidence); Phenotypes: Beckwith-Wiedemann syndrome, 130650 (3) | IMAGE syndrome, 614732 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CDKN1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CDKN1C were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732 for gene: CDKN1C

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CDKN1C.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CDKN1C. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CDKN1C was added gene: CDKN1C was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CDKN1C was set to