STRs in panel
Prev Next
Regions in panel
Prev Next

Early onset familial premature ovarian failure

Gene: FMR1

Red List (low evidence)

FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 12 panels

2 reviews

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 11:15 a.m.

Ellen McDonagh (Genomics England Curator)

Phenotypes sourced from UKGTN and OMIM. Mode of inheritance for Premature ovarian failure 1 is X-linked on OMIM.
Created: 11 Jan 2016, 10:10 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
  • Other
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Premature ovarian failure 1
  • Fragile X tremor/ataxia syndrome
  • Fragile X syndrome
  • Fragile X Mental Retardation Syndrome
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
Complete
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

5 Dec 2016, Gel status: 1

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

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene FMR1 were set to Premature ovarian failure 1; Fragile X tremor/ataxia syndrome; Fragile X syndrome; Fragile X Mental Retardation Syndrome

11 Jan 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

FMR1 was added to Early onset familial premature ovarian failurepanel. Sources: Other

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FMR1 was created by ellenmcdonagh

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FMR1 was added to Early onset familial premature ovarian failurepanel. Sources: Eligibility statement prior genetic testing,UKGTN