| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Red cell disorders v0.155 | VHL | Zornitza Stark Marked gene: VHL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.155 | VHL | Zornitza Stark Gene: vhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.155 | VHL | Zornitza Stark Classified gene: VHL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.155 | VHL | Zornitza Stark Gene: vhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red cell disorders v0.154 | VHL |
Zornitza Stark gene: VHL was added gene: VHL was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: VHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VHL were set to 12844285; 21454469; 24729484; 23403324 Phenotypes for gene: VHL were set to Erythrocytosis, familial, 2, MIM# 263400 Mode of pathogenicity for gene: VHL was set to Other Review for gene: VHL was set to GREEN Added comment: Well established gene-disease association. Bi-allelic missense variants, postulated to be hypomorphic. Note mono-allelic variants associated with Von Hippel Lindau syndrome. Sources: Expert list |
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