LAGE3

L antigen family member 3
OMIM: 300060, Gene2Phenotype

5 panels

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

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

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 Unexplained young onset end-stage renal disease


Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Galloway-Mowat syndrome 2, X-linked #301006
    Green LAGE3 in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Galloway-Mowat syndrome 2, X-linked, 301006