PanelApp (test)
  1. Genes and Genomic Entities
  2. CDKN1C:Ensemblv90

CDKN1C:Ensemblv90

cyclin dependent kinase inhibitor 1C
OMIM: 600856, ClinGen, DECIPHER

37 panels

Panel Reviews Mode of inheritance Details
37 panels

Red CDKN1C in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Beckwith-Wiedemann syndrome, MIM# 130650

Green CDKN1C in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.27

1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • IMAGe syndrome, MIM# 614732

Green CDKN1C in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.49

1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476

Green CDKN1C in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.153

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green CDKN1C in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Beckwith-Wiedemann syndrome, MIM# 130650
  • IMAGe syndrome, MIM# 614732
  • Silver-Russell syndrome

Green CDKN1C in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Beckwith-Wiedemann syndrome, MIM# 130650

Green CDKN1C in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber CDKN1C in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • IMAGE syndrome, MIM# 614732

Green CDKN1C in Wilms Tumour Predisposition


Level 2: Cancer predisposition
Version 0.40

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green CDKN1C in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

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

Amber CDKN1C in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Beckwith-Wiedemann syndrome 130650

    Red CDKN1C in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Beckwith-Wiedemann syndrome

    Red CDKN1C in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Beckwith-Wiedemann syndrome

    Green CDKN1C in Microcephalic Primordial Dwarfism and Slender bone dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.29

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • IMAGE syndrome 614732

    Green CDKN1C in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Beckwith-Wiedemann syndrome

    Green CDKN1C in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.293

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

    Green CDKN1C in Growth failure


    Version 1.87

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • IMAGe syndrome, MIM# 614732
    • Silver-Russell syndrome

    Green CDKN1C in Imprinting disorders


    Version 1.9

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Affected tissue: all
    • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
    • Phenotypes resulting from gene over expression: IMAGE syndrome
    • Silver-Russell Syndrome

    Green CDKN1C in Fetal anomalies


    Version 1.482

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Beckwith-Wiedemann syndrome, MIM# 130650
    • IMAGe syndrome, MIM# 614732
    • Silver-Russell syndrome

    Green CDKN1C in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • IMAGe syndrome, MIM# 614732
    Tags
    • treatable
    • endocrine

    Red CDKN1C in Congenital diaphragmatic hernia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Beckwith-Wiedemann syndrome, MIM# 130650

    Green CDKN1C in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • IMAGe syndrome, MIM# 614732

    Green CDKN1C in Hyperinsulinism


    Level 2: Endocrine disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476

    Green CDKN1C in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green CDKN1C in Overgrowth


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Beckwith-Wiedemann syndrome, MIM# 130650

    Green CDKN1C in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green CDKN1C in Wilms Tumour Predisposition


    Level 2: Cancer predisposition
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green CDKN1C in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

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

    Amber CDKN1C in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Beckwith-Wiedemann syndrome 130650

    Red CDKN1C in TCGA_PANCAN_2018


    Version 1.0

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Beckwith-Wiedemann syndrome

    Green CDKN1C in Microcephalic Primordial Dwarfism and Slender bone dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • IMAGE syndrome 614732

    Green CDKN1C in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Beckwith-Wiedemann syndrome

    Green CDKN1C in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Green CDKN1C in Growth failure


    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • IMAGe syndrome, MIM# 614732
    • Silver-Russell syndrome

    Green CDKN1C in Imprinting disorders


    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Affected tissue: all
    • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
    • Phenotypes resulting from gene over expression: IMAGE syndrome
    • Silver-Russell Syndrome

    Green CDKN1C in Fetal anomalies


    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Victorian Clinical Genetics Services
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Beckwith-Wiedemann syndrome, MIM# 130650
    • IMAGe syndrome, MIM# 614732
    • Silver-Russell syndrome

    Green CDKN1C in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • BeginNGS
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • IMAGe syndrome, MIM# 614732
    Tags
    • treatable
    • endocrine