Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: PATL2EnsemblGeneIds (GRCh38): ENSG00000229474
EnsemblGeneIds (GRCh37): ENSG00000229474
OMIM: 614661, Gene2Phenotype
PATL2 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 5 unrelated families reported but presentation is with infertility rather than POI/POF.Created: 11 Dec 2020, 5:29 a.m. | Last Modified: 11 Dec 2020, 5:29 a.m.
Panel Version: 0.141
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oocyte maturation defect 4, MIM# 617743
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genetic Health QLD
- Phenotypes
-
- Oocyte maturation defect 4, MIM# 617743
- OMIM
- 614661
- Clinvar variants
- Variants in PATL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: patl2 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PATL2 were changed from to Oocyte maturation defect 4, MIM# 617743
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PATL2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PATL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)gene: PATL2 was added gene: PATL2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: PATL2 was set to Unknown