Activity
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15 actions
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| Congenital myopathy v6.44 | MYMX | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619941) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.44 | MYMX | Achchuthan Shanmugasundram Phenotypes for gene: MYMX were changed from ?Carey-Fineman-Ziter syndrome 2, OMIM:619941 to Carey-Fineman-Ziter syndrome 2, OMIM:619941; Carey-Fineman-Ziter syndrome 2, MONDO:0100292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.43 | MYMX | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MYMX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.43 | MYMX | Achchuthan Shanmugasundram Tag Q4_24_promote_green was removed from gene: MYMX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.43 | MYMX | Achchuthan Shanmugasundram commented on gene: MYMX: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.42 | MYMX |
Achchuthan Shanmugasundram Source Expert Review Green was added to MYMX. Source NHS GMS was added to MYMX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v5.8 | MYMX | Achchuthan Shanmugasundram Classified gene: MYMX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v5.8 | MYMX | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases and functional work) for the association of biallelic MYMX variants with congenital myopathy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v5.8 | MYMX | Achchuthan Shanmugasundram Gene: mymx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v5.7 | MYMX | Achchuthan Shanmugasundram Phenotypes for gene: MYMX were changed from congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism to ?Carey-Fineman-Ziter syndrome 2, OMIM:619941 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v5.6 | MYMX | Achchuthan Shanmugasundram Publications for gene: MYMX were set to PMID: 39668186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v5.5 | MYMX | Achchuthan Shanmugasundram Mode of inheritance for gene: MYMX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v5.4 | MYMX | Achchuthan Shanmugasundram Tag Q4_24_promote_green tag was added to gene: MYMX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v5.4 | MYMX | Achchuthan Shanmugasundram reviewed gene: MYMX: Rating: GREEN; Mode of pathogenicity: None; Publications: 35642635, 39668186; Phenotypes: ?Carey-Fineman-Ziter syndrome 2, OMIM:619941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v5.4 | MYMX |
Dmitrijs Rots gene: MYMX was added gene: MYMX was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: MYMX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYMX were set to PMID: 39668186 Phenotypes for gene: MYMX were set to congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism Penetrance for gene: MYMX were set to Complete Review for gene: MYMX was set to GREEN Added comment: The PMID: 39668186 describes additional 2 (to previous 2; total 4) patients with congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism. Enough evidence for the green rating. Probably the gene should be added also to the short stature panel? Sources: Literature |
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