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Mendeliome v0.5407 | M1AP | Zornitza Stark Phenotypes for gene: M1AP were changed from non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility to Spermatogenic failure 48, MIM# 619108; non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5406 | M1AP | Zornitza Stark reviewed gene: M1AP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 48, MIM# 619108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3664 | M1AP | Zornitza Stark Marked gene: M1AP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3664 | M1AP | Zornitza Stark Gene: m1ap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3664 | M1AP | Zornitza Stark Classified gene: M1AP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3664 | M1AP | Zornitza Stark Gene: m1ap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | M1AP |
Ee Ming Wong gene: M1AP was added gene: M1AP was added to Mendeliome. Sources: Literature Mode of inheritance for gene: M1AP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: M1AP were set to PMID: 32673564 Phenotypes for gene: M1AP were set to non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility Review for gene: M1AP was set to GREEN gene: M1AP was marked as current diagnostic Added comment: - One frameshift variant identified in 9 infertile men either in homozygous or compound heterozygous form - One missense variant segregated with infertility in five men from a consanguineous Turkish family Sources: Literature |