ISCA-37486-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-37486-Loss Region in Severe early-onset obesity


Level 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • ClinGen
Phenotypes
  • developmental delay
  • 613444
  • obesity
Green ISCA-37486-Loss Region in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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
    • developmental delay
    • 613444
    • obesity