Primary ovarian insufficiency
Gene: FMR1Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 12:11 p.m. | Last Modified: 10 Nov 2021, 12:11 p.m.
Panel Version: 1.55
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.
Comment when marking as ready: Marked as red as currently NGS unreportableCreated: 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 unreportableCreated: 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
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 11:17 a.m.
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
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
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Red List (Low Evidence).
Publications for FMR1 were set to 20228389; 20301558
Publications for FMR1 were set to 20228389
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)
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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
FMR1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Emory Genetics Laboratory
FMR1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
FMR1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Eligibility statement exclusion criteria
FMR1 was created by ellenmcdonagh