Genomics England
GMS Panels
Panels
Genes and Entities

FMR1_CGG

fragile X mental retardation 1
OMIM: 309550
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fragile X tremor/ataxia syndrome, OMIM:300623
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.30
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
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