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  1. Genes and Genomic Entities
  2. ISCA-37440-Loss

ISCA-37440-Loss

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ISCA-37440-Loss Region in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.1

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • 2p21 deletion syndrome
    • Hypotonia-cystinuria syndrome, MIM# 606407

    Green ISCA-37440-Loss Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.61

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • 2p21 deletion syndrome
    • Hypotonia-cystinuria syndrome, MIM# 606407

    Green ISCA-37440-Loss Region in Common deletion and duplication syndromes


    Version 1.2

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • 2p21 deletion syndrome
    • Hypotonia-cystinuria syndrome, MIM# 606407

    Green ISCA-37440-Loss Region in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • 2p21 deletion syndrome
    • Hypotonia-cystinuria syndrome, MIM# 606407