CDKN1C

cyclin dependent kinase inhibitor 1C
OMIM: 600856
PanelMode of inheritanceDetails
9 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
BECKWITH-WIEDEMANN SYNDROME, BWS
R-numbers: R150
Signed-off version 2.2
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
BECKWITH-WIEDEMANN SYNDROME 130650, IMAGe Syndrome
R-numbers: R146
Signed-off version 2.2
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)
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
BECKWITH-WIEDEMANN SYNDROME, IMAGe Syndrome
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
SRS/BWS, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies, Beckwith-Wiedemann syndrome, 130650
R-numbers: R110
Signed-off version 2.1
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
IMAGE syndrome 614732
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Beckwith-Wiedemann Syndrome, Wilms Tumor, Beckwith-Wiedemann syndrome, 130650, IMAGE syndrome, 614732, Silver-Russell Syndrome, Beckwith-Wiedemann syndrome