ISCA-37392-Loss

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ISCA-37392-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
  • 194050
  • Williams syndrome
Green ISCA-37392-Loss Region in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 194050
  • Williams syndrome
Green ISCA-37392-Loss Region in Intellectual disability


Level 2: Developmental disorders
Version 11.26
Latest signed off version: v11.0 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • 194050
    • Williams syndrome
    Red ISCA-37392-Loss Region in Monogenic short stature


    Level 2: Endocrinology
    Version 2.9
    Latest signed off version: v2.8 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • Williams-Beuren syndrome, OMIM:194050