Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: BTG4
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
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: LiteratureCreated: 6 Jul 2020, 5:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zygotic cleavage failure (ZCF)
Publications
Gene: btg4 has been classified as Red List (Low Evidence).
Gene: btg4 has been classified as Green List (High Evidence).
Publications for gene: BTG4 were set to
Phenotypes for gene: BTG4 were changed from to Oocyte maturation defect, MIM#619009
Mode of inheritance for gene: BTG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: btg4 has been classified as Green List (High Evidence).
gene: BTG4 was added gene: BTG4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: BTG4 was set to Unknown