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Hereditary neuropathy

STR: FMR1_CGG

Amber List (moderate evidence)

Chromosome: X
GRCh37 Position: 146993569-146993628
GRCh38 Position: 147912051-147912110
Repeated Sequence: CGG
Normal Number of Repeats: < or = 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 10 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 list
Created: 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: < or =
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
  • Expert Review Amber
Phenotypes
  • Fragile X syndrome 300624
  • Late onset tremor, ataxia, parkinsonism, sensory axonal neuropathy, middle cerebellar peduncle changes on MRI
Tags
currently-ngs-unreportable STR
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
None
Publications

History Filter Activity

12 Jun 2019, Gel status: 2

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.

11 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: fmr1_cgg has been classified as Amber List (Moderate Evidence).

11 Jun 2019, Gel status: 1

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