Activity
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12 actions
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| Prepair 1000+ v1.708 | HFE2 | Zornitza Stark Marked gene: HFE2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.708 | HFE2 | Zornitza Stark Gene: hfe2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.708 | HFE2 | Zornitza Stark Phenotypes for gene: HFE2 were changed from Hemochromatosis, type 2A, 602390 (3) to Haemochromatosis, type 2A, 602390 (3) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.633 | HFE2 | Cassandra Muller reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, 602390 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | HFE2 | Seb Lunke Added phenotypes Hemochromatosis, type 2A, 602390 (3) for gene: HFE2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.87 | HFE | Zornitza Stark Marked gene: HFE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.87 | HFE | Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.87 | HFE | Zornitza Stark Classified gene: HFE as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.87 | HFE | Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | TFR2 |
Crystle Lee gene: TFR2 was added gene: TFR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFR2 were set to 29743178 Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3, MIM#604250 Review for gene: TFR2 was set to AMBER Added comment: Age of onset in individuals with TFR2-HHC is earlier than in individuals with HFE-associated hereditary hemochromatosis (Gene Reviews) PMID: 29743178: Mean age at diagnosis for TFR2 HH (32 years) was significantly higher than for HJV HH Sources: Literature |
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| Prepair 1000+ v0.61 | HFE |
Crystle Lee gene: HFE was added gene: HFE was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE were set to Hemochromatosis (MIM#235200) Penetrance for gene: HFE were set to Incomplete Review for gene: HFE was set to RED Added comment: Well established gene disease association. HFE hemochromatosis is an adult-onset, treatable disorder with low clinical penetrance (Gene Reviews). Not suitable for population carrier screening. Sources: Literature |
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| Prepair 1000+ v0.0 | HFE2 |
Zornitza Stark gene: HFE2 was added gene: HFE2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3) |
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