| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v0.155 | MEFV | Zornitza Stark Marked gene: MEFV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | MEFV | Zornitza Stark Gene: mefv has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | MEFV | Zornitza Stark Mode of inheritance for gene: MEFV was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.154 | MEFV | Zornitza Stark Classified gene: MEFV as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.154 | MEFV | Zornitza Stark Gene: mefv has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.153 | MEFV | Zornitza Stark Tag for review was removed from gene: MEFV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.153 | MEFV | Zornitza Stark reviewed gene: MEFV: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever, AR (MIM#249100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.92 | MEFV | Zornitza Stark Tag for review tag was added to gene: MEFV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | MEFV |
Crystle Lee gene: MEFV was added gene: MEFV was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MEFV were set to Familial Mediterranean fever, AR (MIM#249100) Penetrance for gene: MEFV were set to Incomplete Review for gene: MEFV was set to AMBER Added comment: Well established association. Predominantly bi-allelic, though a limited range of heterozygous variants have been associated with disease. Sources: Literature |
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