Genomics England
GMS Panels
Panels
Genes and Entities

FTSJ1

FtsJ RNA methyltransferase homolog 1
OMIM: 300499
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 44 309549
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked 9, 309549, MENTAL RETARDATION X-LINKED TYPE 44 (MRX44)