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Newborns main panel

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Other phenotypes with same MOI not included.

Additional Information: IMAGE syndrome is included in the study and is parent of origin specific - maternally inherited variants cause disease. Variants causing IMAGE syndrome are clustered at the PCNA binding domain: https://www.ncbi.nlm.nih.gov/books/NBK190103/. Males with IMAGE syndrome can have genitourinary abnormalities. Maternally inherited variants in CDKN1C are also associated with Beckwith-Weidemann syndrome which is not included in the study.
Created: 25 Sep 2024, 3:48 p.m. | Last Modified: 19 Nov 2025, 12:58 p.m.
Panel Version: 0.480
Special Consideration: Sex mismatch/DSD - phenotype can include differences of sex development in one or both sexes. This could be the cause of an apparent mismatch between the genotypic sex and the phenotypic sex entered at the point of sample registration.
Created: 25 Sep 2024, 3:47 p.m. | Last Modified: 25 Sep 2024, 3:47 p.m.
Panel Version: 0.469
Special Consideration: Internal inclusion list only
Created: 25 Sep 2024, 3:46 p.m. | Last Modified: 25 Oct 2024, 10:36 a.m.
Panel Version: 0.469
Created: 25 Sep 2024, 3:46 p.m.
Last Modified: 19 Nov 2025, 12:58 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://www.ncbi.nlm.nih.gov/books/NBK190103/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CDKN1C.

8 Jul 2024, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: CDKN1C.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes IMAGE syndrome for gene: CDKN1C

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes IMAGE syndrome for gene: CDKN1C

31 May 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: CDKN1C.

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CDKN1C. Added phenotypes IMAGE syndrome for gene: CDKN1C Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CDKN1C. Added phenotypes IMAGE syndrome for gene: CDKN1C Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: CDKN1C.

9 Mar 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: CDKN1C was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes IMAGE syndrome for gene: CDKN1C

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CDKN1C was added gene: CDKN1C was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown