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| Primary ovarian insufficiency v1.63 | KHDRBS1 | Ivone Leong Classified gene: KHDRBS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.63 | KHDRBS1 |
Ivone Leong Added comment: Comment on list classification: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID:28938739 describes 2 cases. There was no details given for the idiopathic POI case. ClinVar ID: 929733: as there is no further information available about this case I am hesitant in including this as part of the case count. PMID:29808484. As stated by Zornitza Stark (Australian Genomics), the variant detected in this paper is also not included in the case count. As there is only 1 case and 1 animal model there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating until more evidence is available. |
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| Primary ovarian insufficiency v1.63 | KHDRBS1 | Ivone Leong Gene: khdrbs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.62 | KHDRBS1 | Ivone Leong Tag watchlist tag was added to gene: KHDRBS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.60 | KHDRBS1 |
Zornitza Stark gene: KHDRBS1 was added gene: KHDRBS1 was added to Primary ovarian insufficiency. 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 gene: KHDRBS1 was marked as current diagnostic Added comment: 4 individuals 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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