TFE3

transcription factor binding to IGHM enhancer 3
OMIM: 314310
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
TFE3-related intellectual disability with pigmentary mosaicism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
TFE3-related intellectual disability with pigmentary mosaicism
R-numbers: R236
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066