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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 | LHX8 | Alison Yeung Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.305 | LHX8 | Alison Yeung Classified gene: LHX8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.305 | LHX8 | Alison Yeung Gene: lhx8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.304 | LHX8 | Alison Yeung reviewed gene: LHX8: Rating: GREEN; Mode of pathogenicity: None; Publications: 36029299; Phenotypes: Inherited premature ovarian failure, MONDO:0019852, LHX8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 | LHX8 | Bryony Thompson Marked gene: LHX8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 | LHX8 | Bryony Thompson Gene: lhx8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.223 | LHX8 |
Bryony Thompson gene: LHX8 was added gene: LHX8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904 Phenotypes for gene: LHX8 were set to Primary ovarian insufficiency Review for gene: LHX8 was set to RED Added comment: Only supporting mouse model. Same variant reported in 2 cases is too common PMID: 34095689 - 1 POI case with missense p.Ala325Val, which has 533 hets and 22 homozygotes in gnomAD v2.1, too common for Mendelian disease PMID: 29329412 - Lhx8 knockout mouse model demonstrates premature depletion of oocytes PMID: 27603904 - 1 POI case also with p.Ala325Val Sources: Literature |
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