Test panel testing 2020-07-27
STR: FMR1_CGG

Chromosome: X
GRCh37 Position: 146993569-146993628
GRCh38 Position: 147912051-147912110
Repeated Sequence: CGG
Normal Number of Repeats: < 55
Pathogenic Number of Repeats: = or > 200

FXR1 (FMR1 autosomal homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000114416
EnsemblGeneIds (GRCh37): ENSG00000114416
OMIM: 600819, Gene2Phenotype
FXR1 is in 0 panels

1 review

Reviewer Test (GenomicsEnglandTesting)

review and again
Created: 27 Jul 2020, 2:01 p.m. | Last Modified: 27 Jul 2020, 2:01 p.m.

Panel Version: 1.13

review, a further review
Created: 27 Jul 2020, 1:46 p.m. | Last Modified: 27 Jul 2020, 1:46 p.m.

Panel Version: 1.13

Created: 27 Jul 2020, 1:46 p.m.
Last Modified: 27 Jul 2020, 2:01 p.m.
Panel version: 1.13

Details

Name

FMR1_CGG

Chromosome

GRCh37 Coordinates

146993569-146993628

GRCh38 Coordinates

147912051-147912110

Repeated Sequence

CGG

Normal Number of Repeats: <

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

Phenotypes

Fragile X syndrome 300624

OMIM

600819

Clinvar variants

Variants in FXR1

Penetrance

None

History Filter Activity

27 Jul 2020, Gel status: 0

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

Reviewer Test (GenomicsEnglandTesting)

STR: FMR1_CGG was added STR: FMR1_CGG was added to Test panel testing 2020-07-27. Sources: Expert list 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

Test panel testing 2020-07-27 STR: FMR1_CGG