FMR1_CGG

fragile X mental retardation 1
OMIM: 309550
PanelMode of inheritanceDetails
2 panels
R-numbers: R54
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
Fragile X tremor/ataxia syndrome, OMIM:300623
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
Fragile X syndrome, OMIM:300624, Fragile X tremor/ataxia syndrome, OMIM:300623