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Early-onset Parkinson disease

Gene: FMR1

No list
FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Parkinsonism is a feature of FXTAS and is not reported in cases with intragenic variants, which have the FXS phenotype. Added as an STR.
Created: 12 May 2022, 12:14 a.m. | Last Modified: 12 May 2022, 12:14 a.m.
Panel Version: 0.127
Parkinsonism can be a relatively common feature of FXTAS, which is caused by 5'UTR repeat expansion.
Created: 25 Mar 2020, 8:55 p.m. | Last Modified: 12 May 2022, 12:16 a.m.
Panel Version: 0.127

Mode of inheritance
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 MIM#300623

Publications

Created: 25 Mar 2020, 8:55 p.m.
Last Modified: 12 May 2022, 12:16 a.m.
Panel version: 0.127

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 Removed
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Fragile X tremor/ataxia syndrome MIM#300623
Tags
STR
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2022, Gel status: 0

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FMR1 were changed from Fragile X tremor/ataxia syndrome MIM#300623; Fragile X syndrome MIM#300624 to Fragile X tremor/ataxia syndrome MIM#300623

12 May 2022, Gel status: 0

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FMR1 were set to 27340021; 28176767

12 May 2022, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fmr1 has been removed from the panel.

15 Aug 2021, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FMR1 were changed from to Fragile X tremor/ataxia syndrome MIM#300623; Fragile X syndrome MIM#300624

15 Aug 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FMR1 were set to

15 Aug 2021, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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

25 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fmr1 has been classified as Green List (High Evidence).

25 Mar 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: FMR1.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FMR1 was added gene: FMR1 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: FMR1 was set to Unknown