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Congenital muscular dystrophy v3.22 | MYMK |
Eleanor Williams Tag Q3_21_rating was removed from gene: MYMK. Tag Q3_21_expert_review was removed from gene: MYMK. Tag Q3_21_phenotype was removed from gene: MYMK. |
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Congenital muscular dystrophy v3.22 | MYMK | Eleanor Williams edited their review of gene: MYMK: Added comment: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. MYMK will remain green on the Congenital Myopathy panel.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.21 | MYMK |
Eleanor Williams Source Expert Review Red was added to MYMK. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Congenital muscular dystrophy v2.31 | MYMK | Eleanor Williams commented on gene: MYMK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.31 | MYMK | Eleanor Williams Tag Q3_21_rating tag was added to gene: MYMK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.18 | MYMK | Ivone Leong commented on gene: MYMK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.18 | MYMK |
Ivone Leong Tag Q3_21_expert_review tag was added to gene: MYMK. Tag Q3_21_phenotype tag was added to gene: MYMK. |
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Congenital muscular dystrophy v2.6 | MYMK | Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome, 254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.4 | MYMK | Zornitza Stark reviewed gene: MYMK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome (MIM #254940); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.76 | MYMK | Louise Daugherty Source NHS GMS was added to MYMK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.47 | MYMK | Louise Daugherty Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, 254940 |