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| Mendeliome v0.9893 | KHDRBS1 | Bryony Thompson Marked gene: KHDRBS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9893 | KHDRBS1 | Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9893 | KHDRBS1 | Bryony Thompson Classified gene: KHDRBS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9893 | KHDRBS1 | Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9892 | KHDRBS1 |
Bryony Thompson gene: KHDRBS1 was added gene: KHDRBS1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015 Phenotypes for gene: KHDRBS1 were set to Premature ovarian failure Review for gene: KHDRBS1 was set to GREEN Added comment: 4 cases in 3 unrelated families and a supporting mouse model PMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case. SCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733) PMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count. PMID: 20881015 - supporting null mouse model. Female mice were subfertile. Sources: Literature |
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