Wilms Tumour
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 17 panels
1 review
Chirag Patel (Genetic Health Queensland)
Established gene-disease association. Wilms tumour reported in condition.
Sources: Expert list, Expert ReviewCreated: 26 Sep 2024, 12:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wilms tumor, MONDO:0006058; Beckwith-Wiedemann syndrome due to CDKN1C mutation, MONDO:0016476; Beckwith-Wiedemann syndrome, MIM#130650
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Wilms tumor, MONDO:0006058
- Beckwith-Wiedemann syndrome due to CDKN1C mutation, MONDO:0016476
- Beckwith-Wiedemann syndrome, MIM#130650
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- None
- Panels with this gene
-
- Overgrowth
- Clefting disorders
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Imprinting disorders
- Differences of Sex Development
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Congenital diaphragmatic hernia
- Wilms Tumour
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdkn1c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: cdkn1c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: CDKN1C was added gene: CDKN1C was added to Wilms Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1C were set to Wilms tumor, MONDO:0006058; Beckwith-Wiedemann syndrome due to CDKN1C mutation, MONDO:0016476; Beckwith-Wiedemann syndrome, MIM#130650 Review for gene: CDKN1C was set to GREEN