Hereditary ataxia
Gene: FMR1

FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 11 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoted from Green to Red as the disease mechanism is repeat expansion and SNVs are not relevant to FXTAS.
Created: 14 Nov 2022, 10:56 a.m. | Last Modified: 14 Nov 2022, 10:56 a.m.

Panel Version: 1.312

Created: 14 Nov 2022, 10:56 a.m.
Last Modified: 14 Nov 2022, 10:56 a.m.
Panel version: 1.312

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

Only CGG expansion causes movement disorder. Should be excluded from the panel, as would result in SNV analysis.
Created: 25 Apr 2022, 10:16 a.m. | Last Modified: 25 Apr 2022, 10:16 a.m.

Panel Version: 1.302

Created: 25 Apr 2022, 10:16 a.m.
Last Modified: 25 Apr 2022, 10:16 a.m.
Panel version: 1.302

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.

Created: 11 Jul 2016, 4:09 a.m.

Panel version: 0.74

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 Red
Eligibility statement prior genetic testing
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Fragile X tremor/ataxia syndrome, OMIM:300623

Tags

nucleotide-repeat-expansion

OMIM

309550

Clinvar variants

Variants in FMR1

Penetrance

Complete

Panels with this gene

History Filter Activity

14 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fmr1 has been classified as Red List (Low Evidence).

10 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FMR1 were changed from 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 to Fragile X tremor/ataxia syndrome, OMIM:300623

11 Jul 2016, Gel status: 4