LAGE3

L antigen family member 3
OMIM: 300060, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green LAGE3 in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Green LAGE3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.8
Latest signed off version: v7.0 (6 May 2026)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Red LAGE3 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • GALLOWAY-MOWAT SYNDROME 2, 301006
    Green LAGE3 in Proteinuric renal disease


    Level 2: Renal
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Galloway-Mowat syndrome 2, X-linked, OMIM:301006