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Infertility and Recurrent Pregnancy Loss v0.204 CLPB Zornitza Stark Marked gene: CLPB as ready
Infertility and Recurrent Pregnancy Loss v0.204 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.204 CLPB Zornitza Stark Classified gene: CLPB as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v0.204 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v0.203 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from Primary ovarian insufficiency to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Primary ovarian insufficiency
Infertility and Recurrent Pregnancy Loss v0.103 CLPB Jasmine Chew gene: CLPB was added
gene: CLPB was added to Infertility and Pregnancy Loss. Sources: Literature
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 36074910
Phenotypes for gene: CLPB were set to Primary ovarian insufficiency
Review for gene: CLPB was set to GREEN
Added comment: PMID: 36074910- A novel splicing variant is associated with CLPB deficiency in an individual who survived to adulthood. POI is a common feature of postpubertal female individuals with CLPB deficiency.
Sources: Literature