Childhood solid tumours
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 11:43 a.m. | Last Modified: 30 Jan 2023, 11:43 a.m.
Panel Version: 3.3
Sarah Leigh (Genomics England Curator)
The paternal allele of CDKN1C is imprinted, resulting in preferenctial expression of the maternal allele (PMID: 7550351; 7729684; 8610162), therefore the mode of inheritance has been changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)Created: 7 Apr 2022, 2:01 p.m. | Last Modified: 7 Apr 2022, 2:01 p.m.
Panel Version: 2.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Beckwith-Wiedemann syndrome
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: Causes Beckwith-Wiedemann which could present in this category.Created: 14 Feb 2016, 4:40 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Beckwith-Wiedemann syndrome, OMIM:130650
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Sarcoma cancer susceptibility
- Differences in sex development
- Clefting
- Monogenic short stature
- Osteogenesis imperfecta
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Wilms tumour with features suggestive of predisposition
- Congenital adrenal hypoplasia
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- IUGR and IGF abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Beckwith-Wiedemann syndrome
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann Syndrome; Wilms Tumor; Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732; Silver-Russell Syndrome; Beckwith-Wiedemann syndrome to Beckwith-Wiedemann syndrome, OMIM:130650
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_22_MOI was removed from gene: CDKN1C.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CDKN1C were set to 10424812
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_22_MOI tag was added to gene: CDKN1C.
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CDKN1C. Mode of inheritance for gene CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Beckwith-Wiedemann syndrome for gene: CDKN1C Publications for gene CDKN1C were changed from to 10424812
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to CDKN1C. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Added New Source
Eik Haraldsdottir (Genomics England)CDKN1C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)CDKN1C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)CDKN1C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory