Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: ZNF483EnsemblGeneIds (GRCh38): ENSG00000173258
EnsemblGeneIds (GRCh37): ENSG00000173258
ZNF483 is in 2 panels
1 review
Mark Cleghorn (Royal Melbourne Hospital)
PMID: 38951643, ESHG 2024 presentation
Large cohort assessing PRS for age of menarche
Noted rare PTVs in ZNF483 assoc w earlier menarche
No individual case information in this study
Sources: LiteratureCreated: 18 Jul 2024, 1:46 a.m.
Mode of inheritance
Unknown
Phenotypes
primary ovarian failure MONDO:0005387
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- primary ovarian failure MONDO:0005387
- Clinvar variants
- Variants in ZNF483
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf483 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ZNF483 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf483 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Mark Cleghorn (Royal Melbourne Hospital)gene: ZNF483 was added gene: ZNF483 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: ZNF483 was set to Unknown Publications for gene: ZNF483 were set to 38951643 Phenotypes for gene: ZNF483 were set to primary ovarian failure MONDO:0005387 Penetrance for gene: ZNF483 were set to unknown Review for gene: ZNF483 was set to AMBER