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| Mendeliome v2.560 | FTO | Zornitza Stark edited their review of gene: FTO: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.560 | FTO | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.560 | FTO |
Zornitza Stark changed review comment from: Association with male infertility: 3 individuals reported, two LoF variants and a missense, PMID 37146971 and 42576609. AMBER for this association. No segregation data. Some supportive functional data including mouse Fto knockout recapitulating age‑dependent spermatogenic defects.; to: Association with male infertility: 3 individuals reported, two LoF variants and a missense, PMID 37146971 and 42576609. The missense variant has a very high pop frequency. AMBER for this association. No segregation data. Some supportive functional data including mouse Fto knockout recapitulating age‑dependent spermatogenic defects. |
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| Mendeliome v2.560 | FTO | Zornitza Stark edited their review of gene: FTO: Changed publications: 37146971; Changed phenotypes: Infertility disorder, MONDO:0005047, FTO-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.560 | FTO | Zornitza Stark edited their review of gene: FTO: Added comment: Male infertility association: Two unrelated families with heterozygous truncating FTO variants (p.Arg322*, p.Leu426fs) presenting with oligospermia or non‑obstructive azoospermia (PMID 37146971) reported. The variants are absent from gnomAD V4, truncate the protein and increase global m6A levels in over‑expression assays. Mouse Fto knockout recapitulates age‑dependent spermatogenic defects.; Changed rating: RED; Changed phenotypes: Infertility disorder, MONDO:0005047, Syndromic disease, MONDO:0002254, lethal polymalformative syndrome, Boissel type, MONDO:0013050; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.546 | FTO | Zornitza Stark reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 42576609, 37529081, 37146971, 30926952, 29161441, 27241786, 26740239, 26697951, 26378117, 19559399; Phenotypes: Infertility disorder, MONDO:0005047, FTO-related, lethal polymalformative syndrome, Boissel type, MONDO:0013050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.0 | FTO | Gene migrated from ENSG00000140718 to ENSG00000140718 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14215 | FTO | Bryony Thompson Marked gene: FTO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14215 | FTO | Bryony Thompson Gene: fto has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14215 | FTO | Bryony Thompson Publications for gene: FTO were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14214 | FTO | Bryony Thompson Phenotypes for gene: FTO were changed from to Growth retardation, developmental delay, facial dysmorphism MIM#612938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14213 | FTO | Bryony Thompson Mode of inheritance for gene: FTO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14212 | FTO | Bryony Thompson reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234441, 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | FTO |
Zornitza Stark gene: FTO was added gene: FTO was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FTO was set to Unknown |
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