LAGE3

L antigen family member 3
OMIM: 300060, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green LAGE3 in Mendeliome


Version 1.4216

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked, MIM# 301006

Green LAGE3 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.405

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked, MIM# 301006

Green LAGE3 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.234

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Galloway-Mowat syndrome 2, X-linked, MIM# 301006

    Green LAGE3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Galloway-Mowat syndrome 2, X-linked, MIM# 301006

    Green LAGE3 in Fetal anomalies


    Version 1.522

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Galloway-Mowat syndrome 2, X-linked - MIM#301006