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Mendeliome v0.11041 C17orf53 Zornitza Stark Marked gene: C17orf53 as ready
Mendeliome v0.11041 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11041 C17orf53 Zornitza Stark Classified gene: C17orf53 as Amber List (moderate evidence)
Mendeliome v0.11041 C17orf53 Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11040 C17orf53 Zornitza Stark gene: C17orf53 was added
gene: C17orf53 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf53 were set to 34707299; 31467087
Phenotypes for gene: C17orf53 were set to Primary ovarian insufficiency
Review for gene: C17orf53 was set to AMBER
Added comment: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.
Sources: Expert Review