Hereditary neuropathy or pain disorder
STR: FMR1_CGGGRCh37 Position: 146993569-146993628
GRCh38 Position: 147912051-147912110
Repeated Sequence: CGG
Normal Number of Repeats: < 55
Pathogenic Number of Repeats: = or > 200
FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 0 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.Created: 25 Feb 2025, 10:33 a.m. | Last Modified: 25 Feb 2025, 10:33 a.m.
Panel Version: 6.155
FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.Created: 21 Oct 2024, 2:17 p.m. | Last Modified: 21 Oct 2024, 3:29 p.m.
Panel Version: 5.22
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:51 p.m. | Last Modified: 15 Mar 2022, 12:51 p.m.
Panel Version: 1.441
Louise Daugherty (Genomics England Curator)
New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green
Sources: Expert listCreated: 11 Jun 2019, 5:37 p.m.
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 syndrome 300624; Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI
Publications
Details
- Name
- FMR1_CGG
- Chromosome
- X
- GRCh37 Coordinates
- 146993569-146993628
- GRCh38 Coordinates
- 147912051-147912110
- Repeated Sequence
- CGG
- Normal Number of Repeats: <
- 55
- Pathogenic Number of Repeats: = or >
- 200
- 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
- Expert Review
- NHS GMS
- Phenotypes
-
- Fragile X syndrome, OMIM:300624
- Fragile X tremor/ataxia syndrome, OMIM:300623
- Tags
- OMIM
- 309550
- Clinvar variants
- Variants in FMR1
- Penetrance
- None
- Publications
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from STR: FMR1_CGG. Tag Q3_24_NHS_review was removed from STR: FMR1_CGG.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: fmr1_cgg has been classified as Green List (High Evidence).
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to STR: FMR1_CGG. Tag Q3_24_NHS_review tag was added to STR: FMR1_CGG.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review STR tags were added to STR: FMR1_CGG. Mode of inheritance for STR: FMR1_CGG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for STR: FMR1_CGG were set to 26212380 Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623