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| Mendeliome v1.3874 | NKAPL | Zornitza Stark Marked gene: NKAPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3874 | NKAPL | Zornitza Stark Gene: nkapl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3874 | NKAPL | Zornitza Stark Classified gene: NKAPL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3874 | NKAPL | Zornitza Stark Gene: nkapl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3873 | NKAPL |
Zornitza Stark gene: NKAPL was added gene: NKAPL was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NKAPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NKAPL were set to 39824811 Phenotypes for gene: NKAPL were set to Spermatogenic failure, MONDO:0004983, NKAPL-related Review for gene: NKAPL was set to AMBER Added comment: PMID 39824811 reports four unrelated Han Chinese men with heterozygous NKAPL variants (c.844G>A, c.896C>G, c.1040G>A and c.1046_1047delTG) presenting with non‑obstructive azoospermia. Supportive mouse model. However, note 3 of the 4 variants are present at relatively high frequencies in gnomAD. Sources: Literature |
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