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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. ZP2
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: ZP2

Red List (low evidence)
ZP2 (zona pellucida glycoprotein 2)
EnsemblGeneIds (GRCh38): ENSG00000103310
EnsemblGeneIds (GRCh37): ENSG00000103310
OMIM: 182888, Gene2Phenotype
ZP2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida. Presents with primary infertility rather than POI/POF.
Sources: Literature
Created: 21 Apr 2020, 4:10 a.m. | Last Modified: 11 Dec 2020, 1:54 a.m.
Panel Version: 0.90

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Female infertility

Publications

Created: 21 Apr 2020, 4:10 a.m.
Last Modified: 11 Dec 2020, 1:54 a.m.
Panel version: 0.90

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health QLD
  • Literature
Phenotypes
  • Oocyte maturation defect 6, MIM# 618353
  • Female infertility
OMIM
182888
Clinvar variants
Variants in ZP2
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: zp2 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: ZP2 were changed from to Oocyte maturation defect 6, MIM# 618353; Female infertility

11 Dec 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZP2 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: ZP2 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: ZP2 was added gene: ZP2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: ZP2 was set to Unknown