FMR1

fragile X mental retardation 1
OMIM: 309550, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Red FMR1 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.21

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement exclusion criteria
Phenotypes
  • Fragile X syndrome, 300624
  • Fragile X tremor ataxia syndrome, 300623
  • Premature ovarian failure 1, 311360
  • Premature Ovarian Insufficiency
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable

Red FMR1 in Hydrocephalus


Version 2.11
Latest signed off version: v2.3 (2 Mar 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Red
  • UKGTN
  • Literature
Phenotypes
  • Fragile X syndrome 300624

Green FMR1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.65
Latest signed off version: v2.64 (16 Dec 2021)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
    • males with a tremor phenotype
    • FragileXtremor/ataxiasyndrome,300623

    Green FMR1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.232

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
    • FragileXtremor/ataxiasyndrome,300623
    • males with a tremor phenotype
    Tags
    • nucleotide-repeat-expansion

    Red FMR1 in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
    • males with a tremor phenotype
    • FragileXtremor/ataxiasyndrome,300623
    Tags
    • nucleotide-repeat-expansion

    Red FMR1 in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FRAGILE X SYNDROME
    • FRAGILE X TREMOR/ATAXIA SYNDROME
    • PREMATURE OVARIAN FAILURE SYNDROME TYPE 1

    Green FMR1 in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360
    • FRAGILE X SYNDROME 300624
    • FRAGILE X TREMOR/ATAXIA SYNDROME 300623

    Green FMR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Fragile X syndrome, 300624Fragile X tremor/ataxia syndrome, 300623Premature ovarian failure 1, 311360
    • PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 (POF1)
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red FMR1 in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • FragileXtremor/ataxiasyndrome,300623
    • Fragile X tremor/ataxia syndrome
    • FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
    • males with a tremor phenotype
    Tags
    • nucleotide-repeat-expansion

    Green FMR1 in Severe Paediatric Disorders


    Version 1.66

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fragile X syndrome, 300624
    • Premature ovarian failure 1, 311360
    • Fragile X tremor/ataxia syndrome, 300623

    No list FMR1_CGG STR in Primary ovarian insufficiency

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 1.21

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Fragile X syndrome 300624
    Tags
    • STR
    • curated_removed

    No list FMR1_CGG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.232

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Fragile X syndrome 300624
    Tags
    • STR
    • curated_removed

    No list FMR1_CGG STR in TestPanel

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.75

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review

    Amber FMR1_CGG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.394

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Fragile X syndrome 300624
    • Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI
    Tags
    • STR
    • currently-ngs-unreportable

    Green FMR1_CGG STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fragile X syndrome 300624
    Tags
    • currently-ngs-unreportable
    • STR

    Green FMR1_CGG STR in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fragile X syndrome, 300624
    Tags
    • STR