| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4671 | HIPK4 | Zornitza Stark Marked gene: HIPK4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4671 | HIPK4 | Zornitza Stark Gene: hipk4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4671 | HIPK4 | Zornitza Stark Classified gene: HIPK4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4671 | HIPK4 | Zornitza Stark Gene: hipk4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4670 | HIPK4 |
Zornitza Stark gene: HIPK4 was added gene: HIPK4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HIPK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HIPK4 were set to 10.64898/2026.03.04.26346694; 35931115 Phenotypes for gene: HIPK4 were set to Infertility disorder, MONDO:0005047, HIPK4-related Review for gene: HIPK4 was set to GREEN Added comment: PMID 35931115 reports 10 individuals from 10 unrelated families with heterozygous loss‑of‑function HIPK4 variants presenting with nonobstructive azoospermia; functional assays demonstrate reduced protein for a truncating variant and Hipk4 knockout mice are sterile, supporting a monoallelic loss‑of‑function disease mechanism. Sources: Literature |
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