Primary ovarian insufficiency
Gene: FMR1

FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 11 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 10 Nov 2021, 12:11 p.m. | Last Modified: 10 Nov 2021, 12:11 p.m.

Panel Version: 1.55

Created: 10 Nov 2021, 12:11 p.m.
Last Modified: 10 Nov 2021, 12:11 p.m.
Panel version: 1.55

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

This will be important once expansion is reported, but one would hope the women with POI will already have undergone Frax testing prior to entry for WGS.
Created: 9 Jun 2017, 4:15 p.m.

Created: 9 Jun 2017, 4:15 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Marked as red as currently NGS unreportable
Created: 22 May 2017, 8:43 a.m.

This is a repeat expansion mutation in the FMR1 gene. Females with POI carry 55-200 trinucleotide repeats (also known as FMR1 premutation). Males with >200 trinucleotide repeats are affected by Fragile X syndrome.
Tagged as red as currently ngs unreportable
Created: 27 Apr 2017, 3:26 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
Premature ovarian failure 1, 311360

Publications

20228389

Created: 27 Apr 2017, 3:26 p.m.

Panel version: 0.6

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 11:17 a.m.

Created: 5 Dec 2016, 11:17 a.m.

Panel version: 0.5

Details

Mode of Inheritance

Other

Sources

Expert Review Red
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Eligibility statement exclusion criteria

Phenotypes

Premature ovarian failure 1, OMIM:311360

Tags

nucleotide-repeat-expansion currently-ngs-unreportable

OMIM

309550

Clinvar variants

Variants in FMR1

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

10 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: FMR1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other

10 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FMR1 were changed from Fragile X syndrome, 300624; Fragile X tremor ataxia syndrome, 300623; Premature ovarian failure 1, 311360; Premature Ovarian Insufficiency to Premature ovarian failure 1, OMIM:311360

31 May 2017, Gel status: 1