PanelApp
  1. Genes and Genomic Entities
  2. ISCA-37432-Loss

ISCA-37432-Loss

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ISCA-37432-Loss Region in Cholestasis


Level 2: Gastroenterological disorders
Version 1.10

Component of the following Super Panels:

  • Liverome Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 deletion syndrome MIM#614527
    • Renal cysts and diabetes (RCAD) syndrome

    Green ISCA-37432-Loss Region in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.99

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 deletion syndrome MIM#614527
    • Renal cysts and diabetes (RCAD) syndrome

    Green ISCA-37432-Loss Region in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 1.0

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Chromosome 17q12 deletion syndrome MIM#614527
    • Renal cysts and diabetes (RCAD) syndrome

    Green ISCA-37432-Loss Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 deletion syndrome MIM#614527
    • Renal cysts and diabetes (RCAD) syndrome

    Green ISCA-37432-Loss Region in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.224

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 deletion syndrome MIM#614527
    • Renal cysts and diabetes (RCAD) syndrome

    Green ISCA-37432-Loss Region in Common deletion and duplication syndromes


    Version 0.158

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 17q12 deletion syndrome MIM#614527
    • Renal cysts and diabetes (RCAD) syndrome