CDKN1C

cyclin dependent kinase inhibitor 1C
OMIM: 600856, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red CDKN1C in Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
  • IMAGE syndrome, 614732

Green CDKN1C in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

Green CDKN1C in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGe syndrome), 614732

Green CDKN1C in Segmental overgrowth disorders


Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
  • BWS
  • Macrocephaly and Overgrowth Syndromes
  • Beckwith-Wiedemann Syndrome
  • Hemiohyperplasia, Isolated, 235000
  • IH

Green CDKN1C in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650

Green CDKN1C in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.36

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Beckwith-Wiedemann Syndrome
  • Wilms Tumor
  • Beckwith-Wiedemann syndrome, 130650
  • IMAGE syndrome, 614732
  • Silver-Russell Syndrome
  • Beckwith-Wiedemann syndrome

Amber CDKN1C in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650

Green CDKN1C in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Beckwith-Wiedemann syndrome

Green CDKN1C in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Other
  • UKGTN
Phenotypes
  • IMAGE syndrome, 614732
  • Beckwith-Wiedemann syndrome 130650
  • Disproportionate Short Stature and Wilms Tumor: Sequencing Panels (Emory)

Green CDKN1C in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.193

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • IMAGE syndrome 614732

Green CDKN1C in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.91

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement exclusion criteria
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
  • IMAGE syndrome, 614732

Green CDKN1C in Fetal anomalies


Version 0.339

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME
  • IMAGe Syndrome

No list CDKN1C in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.52

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Disproportionate Short Stature

Green CDKN1C in DDG2P


Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME 130650
  • IMAGe Syndrome

Green CDKN1C in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.49

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
Phenotypes
  • BECKWITH-WIEDEMANN SYNDROME
  • BWS

Green CDKN1C in Growth failure in early childhood


Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • SRS/BWS
  • Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
  • Beckwith-Wiedemann syndrome, 130650

Amber CDKN1C in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1015

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • IMAGE syndrome, 614732
  • ntrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

Red CDKN1C in Groopman et al 2019 - Genes with diagnostic variants


Version 0.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • Beckwith-Wiedemann syndrome
  • MIM 130650
  • Glomerulopathy

Amber CDKN1C in Sarcoma susceptibility


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
  • Expert Review Amber
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650