ISCA-37404-Loss

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ISCA-37404-Loss Region in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Angelman syndrome, MIM# 105830
    • Prader-Willi syndrome, MIM# 176270
    Tags
    • SV/CNV

    Green ISCA-37404-Loss Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.507

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Angelman syndrome, MIM# 105830
    • Prader-Willi syndrome, MIM# 176270
    Tags
    • SV/CNV

    Green ISCA-37404-Loss Region in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.160

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Angelman syndrome, MIM# 105830
    • Prader-Willi syndrome, MIM# 176270
    Tags
    • SV/CNV

    Green ISCA-37404-Loss Region in Common deletion and duplication syndromes


    Version 0.146

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Angelman syndrome, MIM# 105830
    • Prader-Willi syndrome, MIM# 176270
    Tags
    • SV/CNV

    Green ISCA-37404-Loss Region in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 1.23

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Angelman syndrome, MIM# 105830
    • Prader-Willi syndrome, MIM# 176270
    Tags
    • SV/CNV