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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.59
Latest signed off version: v4.0 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.539
    Latest signed off version: v5.0 (22 Mar 2023)

    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