| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.3918 | RBBP7 | Zornitza Stark Marked gene: RBBP7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3918 | RBBP7 | Zornitza Stark Gene: rbbp7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3918 | RBBP7 | Zornitza Stark edited their review of gene: RBBP7: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3918 | RBBP7 | Zornitza Stark Mode of inheritance for gene: RBBP7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3917 | RBBP7 | Zornitza Stark Classified gene: RBBP7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3917 | RBBP7 | Zornitza Stark Gene: rbbp7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3916 | RBBP7 |
Zornitza Stark gene: RBBP7 was added gene: RBBP7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RBBP7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RBBP7 were set to 39932629; 37843278; 35809576 Phenotypes for gene: RBBP7 were set to Infertility disorder, MONDO:0005047, RBBP7-related Review for gene: RBBP7 was set to GREEN Added comment: PMID 35809576, 37843278, 39932629 report 12 individuals from 11 families with X-linked loss-of-function variants presenting with non‑obstructive azoospermia (severe spermatogenic failure), including maturation arrest and, in one family, Leydig cell tumor. Clinical features include small testes, elevated FSH, absence of spermatocytes and infertility. Functional evidence from Drosophila knock‑down and rescue experiments and mouse germ‑cell line knock‑down supports a loss‑of‑function (haploinsufficiency) mechanism. No contradictory evidence has been reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||