Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: BTG4

BTG4 (BTG anti-proliferation factor 4)
EnsemblGeneIds (GRCh38): ENSG00000137707
EnsemblGeneIds (GRCh37): ENSG00000137707
OMIM: 605673, Gene2Phenotype
BTG4 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Normal ovarian function, presents with infertility.
Created: 13 Dec 2020, 10:14 p.m. | Last Modified: 13 Dec 2020, 10:14 p.m.

Panel Version: 0.172

Phenotypes
Oocyte maturation defect, MIM#619009

Created: 6 Sep 2020, 10:54 p.m.
Last Modified: 6 Sep 2020, 10:54 p.m.
Panel version: 0.172

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32502391
- 4 affecteds from 4 families including 3 consanguineous families. 3 PTVs + 1 splice.
- in vitro assays in HELA cells showed all PTVs had complete loss of protein. The missense variant had abolished interaction with CNOT7
- In vivo studies further demonstrated that the process of maternal mRNA decay was disrupted in the zygotes of the affected individuals, which provides a mechanistic explanation for the phenotype of ZCF
Sources: Literature
Created: 6 Jul 2020, 5:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Zygotic cleavage failure (ZCF)

Publications

PMID: 32502391

Created: 6 Jul 2020, 5:57 a.m.

Panel version: Imported from Mendeliome panel version 0.3241

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genetic Health QLD
Literature

Phenotypes

Oocyte maturation defect, MIM#619009

OMIM

605673

Clinvar variants

Variants in BTG4

Penetrance

None

Publications

32502391

Panels with this gene

History Filter Activity

13 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: btg4 has been classified as Red List (Low Evidence).

11 Dec 2020, Gel status: 3