ISCA-37500-Loss

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ISCA-37500-Loss Region in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.145

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 15q25 deletion syndrome MIM#614294
    • intellectual disability
    • congenital abnormalities
    • haematological abnormalities

    Green ISCA-37500-Loss Region in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 1.22

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 15q25 deletion syndrome MIM#614294
    • intellectual disability
    • congenital abnormalities
    • haematological abnormalities

    Green ISCA-37500-Loss Region in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.22

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 15q25 deletion syndrome MIM#614294
    • intellectual disability
    • congenital abnormalities
    • haematological abnormalities

    Green ISCA-37500-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
    • Chromosome 15q25 deletion syndrome MIM#614294
    • intellectual disability
    • congenital abnormalities
    • haematological abnormalities

    Green ISCA-37500-Loss Region in Red cell disorders


    Level 2: Haematological disorders
    Version 1.57

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 15q25 deletion syndrome MIM#614294
    • intellectual disability
    • congenital abnormalities
    • haematological abnormalities

    Green ISCA-37500-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
    • Chromosome 15q25 deletion syndrome MIM#614294
    • intellectual disability
    • congenital abnormalities
    • haematological abnormalities

    Green ISCA-37500-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
    • Chromosome 15q25 deletion syndrome MIM#614294
    • intellectual disability
    • congenital abnormalities
    • haematological abnormalities