Early onset familial premature ovarian failureGene: FMR1
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 11:15 a.m.
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.
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
Phenotypes for gene FMR1 were set to Premature ovarian failure 1; Fragile X tremor/ataxia syndrome; Fragile X syndrome; Fragile X Mental Retardation Syndrome
FMR1 was added to Early onset familial premature ovarian failurepanel. Sources: Other
FMR1 was created by ellenmcdonagh
FMR1 was added to Early onset familial premature ovarian failurepanel. Sources: Eligibility statement prior genetic testing,UKGTN