ISCA-37432-Loss

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ISCA-37432-Loss Region in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.20

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay

Green ISCA-37432-Loss Region in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay

Green ISCA-37432-Loss Region in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.63

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay

Green ISCA-37432-Loss Region in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.27
Latest signed off version: v2.2 (19 Feb 2020)

Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • RCAD syndrome
    • utero-vaginal atresia
    • Schizophrenia
    • 614527
    • delayed development, intellectual disability
    • Renal cysts and diabetes syndrome
    • Autism Spectrum Disorder
    • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
    • Chromosome 17q12 deletion syndrome
    • global developmental delay

    Green ISCA-37432-Loss Region in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.99

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • RCAD syndrome
    • utero-vaginal atresia
    • Schizophrenia
    • 614527
    • delayed development, intellectual disability
    • Renal cysts and diabetes syndrome
    • Autism Spectrum Disorder
    • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
    • Chromosome 17q12 deletion syndrome
    • global developmental delay

    No list ISCA-37432-Loss Region in Monogenic diabetes


    Version 2.43
    Latest signed off version: v2.2 (25 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    Phenotypes
    • 614527
    • utero-vaginal atresia
    • RCAD syndrome
    • Schizophrenia
    • Chromosome 17q12 deletion syndrome
    • delayed development, intellectual disability
    • global developmental delay
    • Autism Spectrum Disorder
    • Renal cysts and diabetes syndrome
    • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
    Tags
    • curated_removed

    Green ISCA-37432-Loss Region in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.165

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • RCAD syndrome
    • utero-vaginal atresia
    • Schizophrenia
    • 614527
    • delayed development, intellectual disability
    • Renal cysts and diabetes syndrome
    • Autism Spectrum Disorder
    • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
    • Chromosome 17q12 deletion syndrome
    • global developmental delay

    Green ISCA-37432-Loss Region in Unexplained paediatric onset end-stage renal disease


    Version 1.23
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • Schizophrenia
    • Renal cysts and diabetes syndrome
    • delayed development, intellectual disability
    • Autism Spectrum Disorder
    • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
    • global developmental delay
    • 614527
    • RCAD syndrome
    • Chromosome 17q12 deletion syndrome
    • utero-vaginal atresia

    Green ISCA-37432-Loss Region in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • RCAD syndrome
    • utero-vaginal atresia
    • Schizophrenia
    • 614527
    • delayed development, intellectual disability
    • Renal cysts and diabetes syndrome
    • Autism Spectrum Disorder
    • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
    • Chromosome 17q12 deletion syndrome
    • global developmental delay

    Green ISCA-37432-Loss Region in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.149

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • RCAD syndrome
    • utero-vaginal atresia
    • Schizophrenia
    • 614527
    • delayed development, intellectual disability
    • Renal cysts and diabetes syndrome
    • Autism Spectrum Disorder
    • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
    • Chromosome 17q12 deletion syndrome
    • global developmental delay

    Green ISCA-37432-Loss Region in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.42
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Schizophrenia
    • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
    • delayed development, intellectual disability
    • 614527
    • RCAD syndrome
    • utero-vaginal atresia
    • Chromosome 17q12 deletion syndrome
    • Autism Spectrum Disorder
    • global developmental delay
    • Renal cysts and diabetes syndrome