Genomics England
GMS Panels
Panels
Genes and Entities

CDKN1C

cyclin dependent kinase inhibitor 1C
OMIM: 600856
PanelMode of inheritanceDetails
11 panels
Green
in Beckwith-Wiedemann syndrome
R-numbers: R49.3
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Beckwith-Wiedemann syndrome, OMIM:130650
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
BECKWITH-WIEDEMANN SYNDROME, BWS
Green
in Congenital adrenal hypoplasia
R-numbers: R150
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome), 614732
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
BECKWITH-WIEDEMANN SYNDROME 130650, IMAGe Syndrome
Green
in Differences in sex development
R-numbers: R146
Signed-off version 4.5
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
IMAGE syndrome, 614732, Beckwith-Wiedemann syndrome 130650, Disproportionate Short Stature and Wilms Tumor: Sequencing Panels (Emory)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
BECKWITH-WIEDEMANN SYNDROME, IMAGe Syndrome
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
IMAGE syndrome, OMIM:614732
Green
in Segmental overgrowth disorders - Deep sequencing
R-numbers: R110
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Beckwith-Wiedemann syndrome, 130650, BWS, Macrocephaly and Overgrowth Syndromes, Beckwith-Wiedemann Syndrome, Hemiohyperplasia, Isolated, 235000, IH
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
IMAGE syndrome 614732
Green
in Wilms tumour with features suggestive of predisposition
R-numbers: R220
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Beckwith-Wiedemann syndrome, OMIM:130650