| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.0 | PPP2R1B | Gene migrated from ENSG00000137713 to ENSG00000137713 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5006 | PPP2R1B | Zornitza Stark Marked gene: PPP2R1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5006 | PPP2R1B | Zornitza Stark Gene: ppp2r1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5006 | PPP2R1B | Zornitza Stark Classified gene: PPP2R1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5006 | PPP2R1B | Zornitza Stark Gene: ppp2r1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5005 | PPP2R1B |
Zornitza Stark gene: PPP2R1B was added gene: PPP2R1B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PPP2R1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R1B were set to 33913576 Phenotypes for gene: PPP2R1B were set to Infertility disorder, MONDO:0005047, PPP2R1B-related Review for gene: PPP2R1B was set to AMBER Added comment: PMID 33913576 reports 5 individuals from 3 unrelated families with heterozygous missense PPP2R1B variants causing non‑obstructive azoospermia with meiotic arrest, and an additional individual with Sertoli‑cell‑only syndrome. Affected males present with meiotic arrest leading to infertility; the Sertoli‑cell‑only case shows a distinct histological phenotype. Cellular assays demonstrate reduced protein stability and increased ubiquitination for the meiotic‑arrest variants, whereas the Sertoli‑cell‑only variant shows normal stability. Homozygous deletion of Ppp2r1b in Mus musculus impaired meiotic recombination and caused meiotic arrest in spermatocytes. All the variants are missense and present in gnomAD, including the p.Arg410His variant in 32 hets. Lack of segregation data. All the variants would be classified as VOUS, hence Amber rating. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||