Childhood solid tumours
Gene: CDKN1CThe 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
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
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Beckwith-Wiedemann syndrome
Comment when marking as ready: Causes Beckwith-Wiedemann which could present in this category.Created: 14 Feb 2016, 4:40 p.m.
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
Tag Q2_22_MOI was removed from gene: CDKN1C.
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)
Publications for gene: CDKN1C were set to 10424812
Tag Q2_22_MOI tag was added to gene: CDKN1C.
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
Source Expert List was added to CDKN1C. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
CDKN1C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
CDKN1C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen
CDKN1C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory