Hereditary neuropathy
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)
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
-
- NHS GMS
- Expert Review
- Expert Review Amber
- 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
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to STR: FMR1_CGG.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624; Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable was removed from STR: FMR1_CGG.
Removed Source, Added New Source
Louise Daugherty (Genomics England Curator)Source Expert list was removed from STR: FMR1_CGG. Source Expert Review was added to STR: FMR1_CGG.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: fmr1_cgg has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary neuropathy. Sources: Expert list currently-ngs-unreportable, 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 300624; Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI Review for STR: FMR1_CGG was set to GREEN