Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Congenital muscular dystrophy v3.56 | HNRNPA2B1 | Arina Puzriakova Phenotypes for gene: HNRNPA2B1 were changed from early-onset oculopharyngeal muscular dystrophy, muscular dystrophy, congenital myopathy to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.55 | HNRNPA2B1 | Arina Puzriakova Tag watchlist was removed from gene: HNRNPA2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.22 | HNRNPA2B1 |
Eleanor Williams Tag for-review was removed from gene: HNRNPA2B1. Tag Q1_22_rating was removed from gene: HNRNPA2B1. Tag Q4_22_promote_green was removed from gene: HNRNPA2B1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.22 | HNRNPA2B1 | Eleanor Williams reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.21 | 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.12 | HNRNPA2B1 | Sarah Leigh Tag Q4_22_promote_green tag was added to gene: HNRNPA2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.11 | HNRNPA2B1 | Sarah Leigh Classified gene: HNRNPA2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.11 | HNRNPA2B1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.11 | HNRNPA2B1 | Sarah Leigh Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.10 | HNRNPA2B1 | Sarah Leigh Added comment: Comment on phenotypes: The OMIM phenotype for HNRNPA2B1 (?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422) is based on one family. PMID: 35484142 presents further variants associated with an expanded phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.10 | HNRNPA2B1 | Sarah Leigh Phenotypes for gene: HNRNPA2B1 were changed from ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, MONDO:0014178 to early-onset oculopharyngeal muscular dystrophy, muscular dystrophy, congenital myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.9 | HNRNPA2B1 | Sarah Leigh edited their review of gene: HNRNPA2B1: Added comment: PMID: 35484142 reports nine heterozygous terminating HNRNPA2B1 variants in ten unrelated cases of early onset severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD); Changed rating: GREEN; Changed publications to: 35484142; Changed phenotypes to: early-onset oculopharyngeal muscular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.9 | HNRNPA2B1 | Sarah Leigh Phenotypes for gene: HNRNPA2B1 were changed from oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy to ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, MONDO:0014178 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v3.8 | HNRNPA2B1 | Sarah Leigh Publications for gene: HNRNPA2B1 were set to https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.31 | HNRNPA2B1 | Anna Sarkozy edited their review of gene: HNRNPA2B1: Added comment: ten independent families reported with a severe, progressive muscular dystrophy with early onset, and de novo frameshift variants in this gene. phenotype is caractherised by symptoms onset before 2 years of age with severe respiratory insufficiency, delayed motor milestones, ptosis and ophthalmoplegia, axial weakness, progressive proximal and distal weakness. Creatine kinase levels were elevated. Disease-causing frameshift mutations abolish the native stop codon and extend the reading frame, creating novel transcripts that escape nonsense-mediated decay and alter the nucleocytoplasmic transport dynamics. in view of this evidence this gene should be upgraded to green; Changed publications to: 35484142; Changed phenotypes to: early-onset oculopharyngeal muscular dystrophy, muscular dystrophy, congenital myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.21 | HNRNPA2B1 | Sarah Leigh commented on gene: HNRNPA2B1: The Q1_22_rating tag has been added as the GMS review for this gene has not been received to date | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.21 | HNRNPA2B1 | Sarah Leigh Tag Q1_22_rating tag was added to gene: HNRNPA2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.5 | 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.5 | HNRNPA2B1 |
Sarah Leigh Tag watchlist tag was added to gene: HNRNPA2B1. Tag for-review tag was added to gene: HNRNPA2B1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.5 | HNRNPA2B1 | Sarah Leigh Publications for gene: HNRNPA2B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.5 | HNRNPA2B1 | Sarah Leigh Classified gene: HNRNPA2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.5 | 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 muscular dystrophy v2.5 | HNRNPA2B1 | Sarah Leigh Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.4 | HNRNPA2B1 |
Anna Sarkozy gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Congenital muscular dystrophy. Sources: Other,Expert list,Research Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNRNPA2B1 were set to oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy Review for gene: HNRNPA2B1 was set to GREEN Added comment: de novo variants in this gene have been reported in multiple unrelated families and presented at the World muscle society congress 2020, a full publication is currently in progress. see abstract: https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext Sources: Other, Expert list, Research |