Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: PATL2

Red List (low evidence)

PATL2 (PAT1 homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000229474
EnsemblGeneIds (GRCh37): ENSG00000229474
OMIM: 614661, Gene2Phenotype
PATL2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

11 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: patl2 has been classified as Red List (Low Evidence).

11 Dec 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PATL2 were changed from to Oocyte maturation defect 4, MIM# 617743

11 Dec 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PATL2 were set to

11 Dec 2020, Gel status: 1

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

11 Dec 2020, Gel status: 1

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