Activity
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28 actions
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 | ACTN2 | Arina Puzriakova Tag Q2_25_ MOI was removed from gene: ACTN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 | ACTN2 | Arina Puzriakova commented on gene: ACTN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 | ACTN2 | Arina Puzriakova Mode of inheritance for gene ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.42 | ACTN2 | Achchuthan Shanmugasundram Publications for gene: ACTN2 were set to 30900782; 34170073; 34386585; 34471957; 36116040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.41 | ACTN2 | Achchuthan Shanmugasundram Tag Q2_25_ MOI tag was added to gene: ACTN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.41 | ACTN2 | Achchuthan Shanmugasundram edited their review of gene: ACTN2: Changed publications to: 30900782, 34170073, 34386585, 34471957, 36116040, 3831179; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.41 | ACTN2 |
Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Cassandra Smith, PMID:3831179 reported a different biallelic variant (p.Arg506Gly) in seven patients from five families of Palestinia decent, all presenting with a consistent phenotype of asymmetric, progressive, proximal, and distal lower extremity predominant muscle weakness. This variant is suggested to be a possible founder variant, which was confirmed through haplotype analysis in two families. The MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as there is sufficient evidence available for the association of biallelic variants with the phenotype. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.41 | ACTN2 | Achchuthan Shanmugasundram Mode of inheritance for gene: ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 | ACTN2 | Cassandra Smith reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38311799; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 | ACTN2 |
Achchuthan Shanmugasundram Tag watchlist_moi was removed from gene: ACTN2. Tag Q2_23_promote_green was removed from gene: ACTN2. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.40 | ACTN2 | Achchuthan Shanmugasundram commented on gene: ACTN2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.39 | ACTN2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ACTN2. Source Expert Review Green was added to ACTN2. 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 v4.35 | ACTN2 | Dmitrijs Rots edited their review of gene: ACTN2: Changed publications to: PMID: 34471957, 30701273, 30900782, 38311799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 | ACTN2 |
Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There are at least 8 unrelated cases with monoallelic inheritance reported in literature. Although there are three unrelated Japanese cases with biallelic inheritance reported in PMID:34471957, all of them were identified with the same homozygous variant. Hence, 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' has currently been chosen as the MOI and it will be reviewed when more cases are reported with biallelic inheritance.; to: Comment on mode of inheritance: There are at least 8 unrelated cases with monoallelic inheritance reported in literature. Although there are three unrelated Japanese cases with biallelic inheritance reported in PMID:34471957, all of them were identified with the same homozygous variant. 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' has currently been chosen as the MOI and it will be reviewed when more cases are reported with biallelic inheritance. Hence, 'watchlist_moi' tag has been added. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.11 | ACTN2 | Achchuthan Shanmugasundram Tag watchlist_moi tag was added to gene: ACTN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 | ACTN2 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ACTN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 | ACTN2 | Achchuthan Shanmugasundram Classified gene: ACTN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 | ACTN2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.7 | ACTN2 | Achchuthan Shanmugasundram Gene: actn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.6 | ACTN2 |
Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are at least 8 unrelated cases with monoallelic inheritance reported in literature. Although there are three unrelated Japanese cases with biallelic inheritance reported in PMID:34471957, all of them were identified with the same homozygous variant. Hence, 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' has currently been chosen as the MOI and it will be reviewed when more cases are reported with biallelic inheritance. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.6 | ACTN2 | Achchuthan Shanmugasundram Mode of inheritance for gene: ACTN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.5 | ACTN2 | Achchuthan Shanmugasundram Phenotypes for gene: ACTN2 were changed from Myopathy, distal, 6, adult onset, OMIM:618655 to Myopathy, distal, 6, adult onset, OMIM:618655 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.5 | ACTN2 | Achchuthan Shanmugasundram Phenotypes for gene: ACTN2 were changed from Muscular dystrophy; hyperCKemia to Myopathy, distal, 6, adult onset, OMIM:618655 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.4 | ACTN2 | Achchuthan Shanmugasundram Publications for gene: ACTN2 were set to 30900782; 34170073; 34386585; 34471957; 36116040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.4 | ACTN2 | Achchuthan Shanmugasundram Publications for gene: ACTN2 were set to 30900782; 34170073; 34386585; 34471957; 36116040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.4 | ACTN2 | Achchuthan Shanmugasundram Publications for gene: ACTN2 were set to PMID: 34471957; 30701273; 30900782 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.3 | ACTN2 | Achchuthan Shanmugasundram reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30900782, 34170073, 34386585, 34471957, 36116040; Phenotypes: Myopathy, distal, 6, adult onset, OMIM:618655; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.32 | ACTN2 |
Dmitrijs Rots gene: ACTN2 was added gene: ACTN2 was added to Limb girdle muscular dystrophy. Sources: Literature Mode of inheritance for gene: ACTN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACTN2 were set to PMID: 34471957; 30701273; 30900782 Phenotypes for gene: ACTN2 were set to Muscular dystrophy; hyperCKemia Penetrance for gene: ACTN2 were set to unknown Review for gene: ACTN2 was set to GREEN Added comment: Multiple individuals from multiple families reported suggesting ACTN2 as both, monoallelic and biallelic cause of muscular dysctrophy. Sources: Literature |
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