PanelApp
  1. Genes and Genomic Entities
  2. ISCA-37430-Loss

ISCA-37430-Loss

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ISCA-37430-Loss Region in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.30

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Miller-Dieker lissencephaly syndrome, MIM# 247200

    Green ISCA-37430-Loss Region in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.412

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Miller-Dieker lissencephaly syndrome, MIM# 247200

    Green ISCA-37430-Loss Region in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.434

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Miller-Dieker lissencephaly syndrome, MIM# 247200

    Green ISCA-37430-Loss Region in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.593

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Miller-Dieker lissencephaly syndrome, MIM# 247200

    Green ISCA-37430-Loss Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Miller-Dieker lissencephaly syndrome, MIM# 247200

    Green ISCA-37430-Loss Region in Common deletion and duplication syndromes


    Version 0.158

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Miller-Dieker lissencephaly syndrome, MIM# 247200

    Green ISCA-37430-Loss Region in Fetal anomalies


    Version 1.576

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Miller-Dieker lissencephaly syndrome, MIM# 247200