Familial rhabdomyosarcoma

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

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

<1 percent of all BWS patients present with rhabdomyosarcoma. Therefore it is a rare complication. Reviewed with Clare Turnbull and Gareth Evans for consensus.
Created: 21 Dec 2017, 10:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Beckwith-Wiedemann syndrome, 130650

History Filter Activity

21 Dec 2017, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CDKN1C was added to Familial rhabdomyosarcoma panel. Sources: Literature

21 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CDKN1C was created by Louise Daugherty