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| Infertility and Recurrent Pregnancy Loss v0.190 | HSF2BP | Zornitza Stark Marked gene: HSF2BP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.190 | HSF2BP | Zornitza Stark Gene: hsf2bp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.190 | HSF2BP | Zornitza Stark Classified gene: HSF2BP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.190 | HSF2BP | Zornitza Stark Gene: hsf2bp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | HSF2BP |
Jasmine Chew changed review comment from: Sources: Literature; to: PMID:32845237, 35174157- Three different homozygous missense variants (S167L, C128R, p.L186P) reported in three independent families. - HSF2BP-S167L variant in mouse showed that it behaves as a hypomorphic allele. Meiocytes bearing the HSF2BP-S167L variant showed a strongly decreased staining of both HSF2BP and BRME1 at the recombination nodules and a reduced number of the foci formed by the recombinases RAD51/DMC1, thus leading to a lower frequency of crossovers. - C128R and p.L186P variants impaired the nuclear location of HSF2BP and affected its DNA repair capacity. Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.103 | HSF2BP |
Jasmine Chew gene: HSF2BP was added gene: HSF2BP was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSF2BP were set to 32845237; 35174157 Phenotypes for gene: HSF2BP were set to Premature ovarian failure 19, OMIM#619245 Review for gene: HSF2BP was set to GREEN Added comment: Sources: Literature |
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