DCX

doublecortin
OMIM: 300121, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green DCX in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.19

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 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
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Lissencephaly, X-linked, MIM# 300067
    • Subcortical laminal heterotopia, X-linked 300067

    Red DCX in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.411

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly, X-linked, MIM# 300067

    Green DCX in Mendeliome


    Version 1.1902

    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
    • Lissencephaly, X-linked, MIM# 300067
    • Subcortical laminal heterotopia, X-linked 300067

    Green DCX in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly, X-linked, MIM# 300067
    • Subcortical laminal heterotopia, X-linked 300067

    Green DCX in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DCX in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green DCX 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
    • Lissencephaly, X-linked, 300067 (3)

    Red DCX in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review Not set
    Sources
    • Genomics England PanelApp
    • Expert Review Red
    Phenotypes
    • Cerebral Malformation Disorders

    Green DCX in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Lissencephaly, X-linked, MIM# 300067

    Green DCX in Fetal anomalies


    Version 1.255

    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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly, X-linked, MIM# 300067
    • Subcortical laminal heterotopia, X-linked 300067

    Green DCX in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lissencephaly, X-linked, 300067 (3)

    Red DCX in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Subcortical laminal heterotopia, X-linked 300067
    • Lissencephaly, X-linked, MIM# 300067

    Green DCX in Prepair 500+


    Level 2: Screening
    Version 1.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lissencephaly, X-linked, 300067 (3)