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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