ACSL4

acyl-CoA synthetase long chain family member 4
OMIM: 300157, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ACSL4 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 63, MIM# 300387 XLD

Green ACSL4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 63, MIM# 300387 XLD

Green ACSL4 in Fetal anomalies


Version 1.255

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 63 , MIM#300387