Disorders of sex development

Gene: CDKN1C

Green List (high evidence)

CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 23 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with both phenotypes in OMIM and with Beckwith-Wiedemann syndrome 130650 in G2P / DD. At least six variants reported in Beckwith-Wiedemann syndrome 130650 and five in IMAGE syndrome, 614732.
Created: 13 Sep 2016, 11:36 a.m.

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

13 Sep 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).

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CDKN1C were set to IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome 130650; Disproportionate Short Stature and Wilms Tumor: Sequencing Panels (Emory)

20 May 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CDKN1C was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Other

20 May 2016, Gel status: 3

clearsources

Sarah Leigh (Genomics England Curator)

CDKN1CAll sources for gene: CDKN1C were removed

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

CDKN1C was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

CDKN1C was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

CDKN1C was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory

20 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CDKN1C was added to Disorders of sex developmentpanel. Sources: UKGTN,Other

20 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CDKN1C was created by sleigh