1. Genes and Genomic Entities
  2. ISCA-37429-Loss

ISCA-37429-Loss

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ISCA-37429-Loss Region in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wolf-Hirschhorn syndrome, OMIM:194190
Green ISCA-37429-Loss Region in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Wolf-Hirschhorn syndrome, OMIM:194190
    Green ISCA-37429-Loss Region in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.13
    Latest signed off version: v3.9 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Wolf-Hirschhorn syndrome, OMIM:194190
    Green ISCA-37429-Loss Region in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.173
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • ClinGen
    Phenotypes
    • Wolf-Hirschhorn syndrome, OMIM:194190
    Green ISCA-37429-Loss Region in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Wolf-Hirschhorn syndrome, OMIM:194190
    Red ISCA-37429-Loss Region in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • Wolf-Hirschhorn syndrome, OMIM:194190