Silver Russell syndrome

Gene: CDKN1C

Red List (low evidence)

CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 19 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that CDKN1C should be included on the panel. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: SRS/BWS.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
SRS/BWS

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is being demoted to red as pathogenicity is caused by changes to methylation of this gene
Created: 8 Jun 2016, 2:27 p.m.
Comment when marking as ready: Associated with phenotype (614732) in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. At least 5 variants reported in the literature.
Created: 8 Jun 2016, 12:26 p.m.
Comment on mode of pathogenicity: GOF variants result in increased stability which could explain an increased activity of CDKN1C
Created: 8 Jun 2016, 12:22 p.m.

Deborah Mackay (university of southampton)

Green List (high evidence)

gain of function mutations in PCNA domain associated with IMAGe and SRS
Created: 7 Jun 2016, 2:30 p.m.

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

Phenotypes
SRS; IMAGe

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
  • IMAGE syndrome, 614732
OMIM
600856
Clinvar variants
Variants in CDKN1C
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 3

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

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

8 Jun 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CDKN1C were set to 8841187; 20503313; 10424811; 24065356; 22634751

8 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CDKN1C were set to Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732

16 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

CDKN1C was added to Silver Russell syndromepanel. Source: Emory Genetics Laboratory

16 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

CDKN1C was added to Silver Russell syndromepanel. Source: Radboud University Medical Center, Nijmegen

16 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CDKN1C was added to Silver Russell syndromepanel. Sources: UKGTN

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CDKN1C was created by sleigh