Activity
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12 actions
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 | SNUPN | Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SNUPN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 | SNUPN | Arina Puzriakova reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 | SNUPN |
Arina Puzriakova Source NHS GMS was added to SNUPN. Source Expert Review Green was added to SNUPN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.45 | SNUPN | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next nGMS update.; to: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.45 | SNUPN | Achchuthan Shanmugasundram Classified gene: SNUPN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.45 | SNUPN | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence available for the promotion of this gene to green rating in the next nGMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.45 | SNUPN | Achchuthan Shanmugasundram Gene: snupn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.44 | SNUPN | Achchuthan Shanmugasundram Phenotypes for gene: SNUPN were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.43 | SNUPN | Achchuthan Shanmugasundram Publications for gene: SNUPN were set to 38413582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.42 | SNUPN | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SNUPN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.42 | SNUPN | Achchuthan Shanmugasundram reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 38366623, 38413582; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 | SNUPN |
Dmitrijs Rots gene: SNUPN was added gene: SNUPN was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to 38413582 Phenotypes for gene: SNUPN were set to muscular dystrophy Review for gene: SNUPN was set to GREEN Added comment: The study reports:"18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects" Sources: Literature |
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