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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.291 | PEX6 | Zornitza Stark Publications for gene: PEX6 were set to 32399598 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.290 | PEX6 | Zornitza Stark Classified gene: PEX6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.290 | PEX6 | Zornitza Stark Gene: pex6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 | PEX6 | Elena Hateley Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 | PEX6 | Elena Tucker reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31555682, PMID: 32399598; Phenotypes: syndromic premature ovarian insufficiency, peroxisomal biogenesis disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 | PEX6 | Elena Hateley reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31555682, PMID: 32399598; Phenotypes: premature ovarian insufficiency, peroxisomal biogenesis disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 | PEX6 | Zornitza Stark Marked gene: PEX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 | PEX6 | Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.49 | PEX6 |
Zornitza Stark gene: PEX6 was added gene: PEX6 was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX6 were set to 32399598 Phenotypes for gene: PEX6 were set to Perrault syndrome Review for gene: PEX6 was set to RED Added comment: Well established gene-disease association for peroxisomal disorders, including milder end of the spectrum (Heimler syndrome). Single case report of Perrault syndrome as presenting phenotype. Sources: Literature |
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