CCND2

cyclin D2
OMIM: 123833, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green CCND2 in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Green CCND2 in Segmental overgrowth disorders - Deep sequencing


Level 2: Dermatology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
  • MPPH3
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
Green CCND2 in Limb disorders


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
    Green CCND2 in Malformations of cortical development


    Level 2: Neurology
    Version 7.30
    Latest signed off version: v7.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • UKGTN
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
    Green CCND2 in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, MONDO:0001149
    Green CCND2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
    Green CCND2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387
    Red CCND2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
    Green CCND2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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 Green
    Phenotypes
    • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
    Green CCND2 in Neurological segmental overgrowth


    Level 2: Neurology
    Version 3.3
    Latest signed off version: v3.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938