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 1.65

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 1.80

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 194050
  • Williams syndrome
Red ISCA-37392-Loss Region in Growth failure in early childhood


Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Williams-Beuren syndrome, OMIM:194050
Green ISCA-37392-Loss Region in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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
    • 194050
    • Williams syndrome