KDM5C

lysine demethylase 5C
OMIM: 314690, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green KDM5C in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534
  • MONDO:0010355

Green KDM5C in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534
  • MONDO:0010355

Green KDM5C in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534
    • MONDO:0010355

    Green KDM5C in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534
    • MONDO:0010355

    Green KDM5C in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534
    • MONDO:0010355

    Green KDM5C in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)

    Green KDM5C in Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534
    • MONDO:0010355

    Green KDM5C in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)

    Green KDM5C in Prepair 500+


    Level 2: Screening
    Version 1.5

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)

    Red KDM5C in Speech apraxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Expert Review
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM# 300534