Genes in panel

Hereditary ataxia - adult onset

Gene: FMR1

Red List (low evidence)

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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

Pre-mutation associated with FX-TAS
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Premutation range of the CGG repeat. Would not be expected to be associated with LoF FMR1 variants (c.f. Fragile X syndrome)
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fragile X tremor/ataxia syndrome

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

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
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Hereditary ataxia v1.148
Phenotypes
  • Fragile X tremor/ataxia syndrome, OMIM:300623
Tags
nucleotide-repeat-expansion
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
None
Panels with this gene

History Filter Activity

10 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

1 Aug 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to FMR1. Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to FMR1.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fragile X tremor/ataxia syndrome for gene: FMR1

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FMR1.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to FMR1.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

18 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: FMR1.

15 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: FMR1 was added gene: FMR1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to FragileXtremor/ataxiasyndrome,300623; males with a tremor phenotype; FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)