Primary ovarian insufficiency

Gene: FMR1

Red List (low evidence)

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

3 reviews

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.

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

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.

Details

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 Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement exclusion criteria
Phenotypes
  • Fragile X syndrome, 300624
  • Fragile X tremor ataxia syndrome, 300623
  • Premature ovarian failure 1, 311360
  • Premature Ovarian Insufficiency
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

31 May 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

22 May 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 May 2017, Gel status: 1

Set publications

Arianna Tucci (Genomics England Curator)

Publications for FMR1 were set to 20228389; 20301558

22 May 2017, Gel status: 1

Set publications

Arianna Tucci (Genomics England Curator)

Publications for FMR1 were set to 20228389

22 May 2017, Gel status: 1

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

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

22 May 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Dec 2016, Gel status: 2

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for FMR1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

13 Jun 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FMR1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Emory Genetics Laboratory

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FMR1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FMR1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Eligibility statement exclusion criteria

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FMR1 was created by ellenmcdonagh