Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FMR1
FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Premature ovarian failure caused by an STR in this gene, which has been added under STRsCreated: 11 Dec 2020, 5:41 a.m. | Last Modified: 11 Dec 2020, 5:41 a.m.
Panel Version: 0.148
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 Removed
- Royal Melbourne Hospital
- Phenotypes
-
- Fragile X tremor ataxia syndrome, 300623
- Fragile X syndrome, 300624
- Premature ovarian failure 1, 311360
- Tags
- OMIM
- 309550
- Clinvar variants
- Variants in FMR1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Ataxia - adult onset
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Repeat Disorders
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Hydrocephalus_Ventriculomegaly
- Autism
- Early-onset Parkinson disease
History Filter Activity
11 Dec 2020, Gel status: 0
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fmr1 has been removed from the panel.
11 Dec 2020, Gel status: 0
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fmr1 has been removed from the panel.
17 Jun 2020, Gel status: 3
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag STR tag was added to gene: FMR1.
17 Jun 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FMR1 was added gene: FMR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to Fragile X tremor ataxia syndrome, 300623; Fragile X syndrome, 300624; Premature ovarian failure 1, 311360