Genomics England
GMS Panels
Panels
Genes and Entities

ACSL4

acyl-CoA synthetase long chain family member 4
OMIM: 300157
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 63, OMIM:300387, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, MONDO:0010263