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Hereditary ataxia - adult onset

STR: FMR1_CGG

Green List (high 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 11 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: 2.147

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel.
Sources: Expert list
Created: 1 Oct 2020, 12:55 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

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
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Fragile X tremor/ataxia syndrome, OMIM:300623
Tags
STR
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to STR: FMR1_CGG.

10 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome, 300624 to Fragile X tremor/ataxia syndrome, OMIM:300623

1 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: fmr1_cgg has been classified as Green List (High Evidence).

1 Oct 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary ataxia - adult onset. Sources: Expert list 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) Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, 300624 Review for STR: FMR1_CGG was set to GREEN