Hereditary ataxia

Gene: FMR1

Green List (high evidence)

FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 10 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: some sequence changes, intragenic mutations and del and dup reported
Created: 11 Jul 2016, 4:09 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

I don't know

F-XTAS. Repeat expansion. NOT APPROPRIATE
Created: 24 Nov 2015, 4:57 p.m.

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

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
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
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Jul 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for FMR1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FMR1 was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FMR1 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FMR1 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen