| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital myopathy v3.46 | HNRNPA2B1 | Arina Puzriakova Tag watchlist was removed from gene: HNRNPA2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.14 | HNRNPA2B1 | Eleanor Williams Tag for-review was removed from gene: HNRNPA2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.14 | HNRNPA2B1 | Eleanor Williams reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.13 | HNRNPA2B1 |
Eleanor Williams Source Expert Review Green was added to HNRNPA2B1. Source NHS GMS was added to HNRNPA2B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v2.21 | HNRNPA2B1 |
Sarah Leigh changed review comment from: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext). This source is a meeting abstract an there is no peer reviewed source at this time.; to: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext). This source is a meeting abstract an there is no peer reviewed source at this time. There is enough evidence for this gene to be green, but GMS opinion is required to confirm this. |
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| Congenital myopathy v2.15 | HNRNPA2B1 |
Sarah Leigh Tag watchlist tag was added to gene: HNRNPA2B1. Tag for-review tag was added to gene: HNRNPA2B1. |
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| Congenital myopathy v2.15 | HNRNPA2B1 | Sarah Leigh Publications for gene: HNRNPA2B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.14 | HNRNPA2B1 | Sarah Leigh Mode of inheritance for gene: HNRNPA2B1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.13 | HNRNPA2B1 | Sarah Leigh Classified gene: HNRNPA2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.13 | HNRNPA2B1 | Sarah Leigh Added comment: Comment on list classification: De novo terminating variants clustered in the C-terminus of the protein have been reported in six unrelated families all with a distinct class of dominantly-acting heterozygous variants in hnRNPA2B1 with a unique clinical phenotype of early childhood-onset progressive muscle weakness, ophthalmoplegia, ptosis, dysphagia, and variable degrees of respiratory insufficiency but no dementia (https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext). This source is a meeting abstract an there is no peer reviewed source at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.13 | HNRNPA2B1 | Sarah Leigh Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.8 | HNRNPA2B1 | Anna Sarkozy reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.8 | HNRNPA2B1 | Anna Sarkozy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.8 | HNRNPA2B1 |
Anna Sarkozy gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Congenital myopathy. Sources: Expert list,Literature Mode of inheritance for gene: HNRNPA2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HNRNPA2B1 were set to oculopharyngodistal myopathy; muscular dystrophy; congenital myopathy Review for gene: HNRNPA2B1 was set to GREEN Added comment: variants in this gene have now been reported in several unrelated families this was presented at the world muscle society conference in 2020 and it is currently submitted for full publication https://doi.org/10.1016/j.nmd.2020.08.006 Sources: Expert list, Literature |
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