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 2.0

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 2.0

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 1.0

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 2.0

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 2.0

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