NEXMIF:Ensemblv90

neurite extension and migration factor
OMIM: 300524, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red NEXMIF in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 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 list
Phenotypes
  • X-linked Intellectual disability
  • epilepsy
  • autism

Green NEXMIF in Mendeliome


Version 1.3802

1 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
  • Mental retardation, X-linked 98 300912

Green NEXMIF in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews 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
    Phenotypes
    • Mental retardation, X-linked 98, MIM# 300912

    Green NEXMIF in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 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
    • Mental retardation, X-linked 98, MIM# 300912

    Green NEXMIF in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    1 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
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked 98, MIM #300912

    Red NEXMIF in Fetal anomalies


    Version 1.482

    1 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
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, X-linked 98 300912

    Green NEXMIF in Prepair 1000+


    Level 2: Screening
    Version 2.15

    1 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
    • Mackenzie's Mission
    Phenotypes
    • Intellectual developmental disorder, X-linked 98, MIM #300912

    Red NEXMIF in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert list
    • Expert Review Red
    Phenotypes
    • X-linked Intellectual disability
    • epilepsy
    • autism

    Green NEXMIF in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Mental retardation, X-linked 98, MIM# 300912

    Green NEXMIF in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Mental retardation, X-linked 98, MIM #300912

    Green NEXMIF in Prepair 1000+


    Level 2: Screening
    Version 3.0

    1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, X-linked 98, MIM #300912