CDKN1C

cyclin dependent kinase inhibitor 1C
OMIM: 600856, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels
Green CDKN1C in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotypes resulting from gene over expression: IMAGE syndrome
  • Silver-Russell Syndrome
  • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
  • Affected tissue: all
Red CDKN1C in Silver Russell syndrome

Level 3: Growth restriction
Level 2: Growth disorders
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • 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 1.69

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 3.11
Latest signed off version: v3.0 (30 Nov 2022)

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 - Deep sequencing


Version 3.17
Latest signed off version: v3.3 (22 Mar 2023)

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 1.5

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
Green CDKN1C in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Beckwith-Wiedemann syndrome, OMIM:130650
Amber CDKN1C in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.25

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 1.27

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
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 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
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 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    • Emory Genetics Laboratory
    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 1.120

    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 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    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 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green CDKN1C in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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 4.111
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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 3.95
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • IMAGE syndrome, OMIM:614732
    Amber CDKN1C in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 1.81
    Latest signed off version: v1.2 (18 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    Phenotypes
    • Beckwith-Wiedemann syndrome, OMIM:130650
    • Rhabdomyosarcoma (disease), MONDO:0005212
    Green CDKN1C in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • IMAGE syndrome, 614732
    • Beckwith-Wiedemann syndrome, 130650
    Green CDKN1C in Wilms tumour with features suggestive of predisposition


    Version 1.3
    Latest signed off version: v1.0 (30 Nov 2022)

    review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    Phenotypes
    • Beckwith-Wiedemann syndrome, OMIM:130650
    Green CDKN1C in Beckwith-Wiedemann syndrome


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • NHS GMS