THSD1

thrombospondin type 1 domain containing 1
OMIM: 616821, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green THSD1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 13, MIM# 620244

Green THSD1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aneurysm, intracranial berry, 12 , MIM# 618734
  • Lymphatic malformation 13, MIM# 620244

Amber THSD1 in Cerebral vascular malformations


Level 2: Neurology and neurodevelopmental disorders
Version 0.39

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Amber
    Phenotypes
    • subarachnoid hemorrhage

    Green THSD1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Lymphatic malformation 13, MIM# 620244