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Cholestasis v1.105 | MVK |
Ivone Leong Tag for-review was removed from gene: MVK. Tag Q1_22_NHS_review was removed from gene: MVK. |
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Cholestasis v1.105 | MVK | Ivone Leong commented on gene: MVK: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.104 | MVK |
Ivone Leong Source Expert Review Green was added to MVK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Cholestasis v1.103 | MVK | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: MVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.103 | MVK | Miranda Durkie reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9714005, 21425920; Phenotypes: Mevalonate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.100 | MVK | Arina Puzriakova Phenotypes for gene: MVK were changed from Mevalonic aciduria, OMIM:610377, MONDO:0012481 to Mevalonic aciduria, OMIM:610377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.74 | MVK | Ivone Leong Tag for-review tag was added to gene: MVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.74 | MVK | Ivone Leong reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v1.73 | MVK |
Ivone Leong gene: MVK was added gene: MVK was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Mevalonic aciduria, OMIM:610377, MONDO:0012481 |