1. Genes and Genomic Entities
  2. ISCA-37418-Loss

ISCA-37418-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-37418-Loss Region in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.33
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Potocki-Lupski syndrome
    • hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders
    • Smith-Magenis syndrome
    • Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance
    • 182290
    • moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems
    • hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies
    • Dental abnormalities
    Green ISCA-37418-Loss Region in Intellectual disability


    Level 2: Developmental disorders
    Version 10.85
    Latest signed off version: v10.0 (6 May 2026)

    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
    • Smith-Magenis syndrome, OMIM:182290
    • Smith-Magenis syndrome, MONDO:0008434