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| Mendeliome v1.3963 | APBB1 | Zornitza Stark Marked gene: APBB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3963 | APBB1 | Zornitza Stark Gene: apbb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3963 | APBB1 | Zornitza Stark Classified gene: APBB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3963 | APBB1 | Zornitza Stark Gene: apbb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3962 | APBB1 |
Zornitza Stark gene: APBB1 was added gene: APBB1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: APBB1 were set to 40151319 Phenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related Review for gene: APBB1 was set to AMBER Added comment: PMID 40151319 reports 9 individuals from 9 unrelated families with heterozygous variants (missense, nonsense, frameshift) in APBB1 presenting with non‑obstructive azoospermia (NOA). The study provides mouse conditional knockout and human spermatogonial stem cell knock‑down functional data supporting a role for APBB1 loss of function in spermatogenic failure. Missing segregation data and at least 2 of the reported variants are present at high frequencies in gnomAD. Sources: Literature |
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