1. Genes and Genomic Entities
  2. ISCA-37425-Loss

ISCA-37425-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-37425-Loss Region in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.120

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • macrocephaly, overgrowth and advanced bone age
  • colpocephaly
  • Sotos syndrome
  • macrocephaly
  • 117550
  • rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Green ISCA-37425-Loss Region in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
    • macrocephaly, overgrowth and advanced bone age
    • colpocephaly
    • Sotos syndrome
    • macrocephaly
    • 117550
    • rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw