Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

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 10 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Comment on list classification: changed to green as diagnostic for intellectual disability
Created: 5 Jun 2018, 10:55 a.m.

Ellen McDonagh (Genomics England Curator)

The normal number of Repeats was changed from 44 to 55.
Created: 6 Jun 2018, 1:48 p.m.
Comments from Arianna Tucci: females with premutation or full mutation alleles can transmit full mutations to their offspring, while men with premutation or full mutation alleles can only pass on a premutation allele.
Created: 31 May 2018, 3:44 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

Variants in this STR are reported as part of current diagnostic practice

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

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 list
Phenotypes
  • Fragile X syndrome 300624
Tags
currently-ngs-unreportable STR
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
None

History Filter Activity

30 Nov 2018, Gel status: 4

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag currently-ngs-unreportable tag was added to STR: FMR1_CGG.

6 Jun 2018, Gel status: 4

Changed Normal Number of Repeats

Ellen McDonagh (Genomics England Curator)

Normal Number of Repeats for FMR1_CGG was changed from 44 to 55. Panel: Intellectual disability

5 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: FMR1_CGG. Panel: Intellectual disability

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: FMR1_CGG was added to Intellectual disability panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: FMR1_CGG was created by Ellen McDonagh