Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: TUFMEnsemblGeneIds (GRCh38): ENSG00000178952
EnsemblGeneIds (GRCh37): ENSG00000178952
OMIM: 602389, Gene2Phenotype
TUFM is in 9 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
1 family with 1 homozygote with NM_172745.3:c.524G>C: p.Gly175Ala)
in vitro functional: reduction in protein expression, decreased mitochondrial membrane potential and increased reactive oxygen species production, inhibits OXPHOS activity and results in impaired autophagy activation
mouse models recapitulates phenotype
Sources: LiteratureCreated: 3 Aug 2023, 2:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inherited primary ovarian failure MONDO:0019852, TUFM-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Inherited primary ovarian failure MONDO:0019852, TUFM-related
- OMIM
- 602389
- Clinvar variants
- Variants in TUFM
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: tufm has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: TUFM was added gene: TUFM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUFM were set to 37468454 Phenotypes for gene: TUFM were set to Inherited primary ovarian failure MONDO:0019852, TUFM-related Review for gene: TUFM was set to RED gene: TUFM was marked as current diagnostic