Congenital myopathy
Gene: HNRNPA2B1EnsemblGeneIds (GRCh38): ENSG00000122566
EnsemblGeneIds (GRCh37): ENSG00000122566
OMIM: 600124, Gene2Phenotype
HNRNPA2B1 is in 4 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:10 p.m.
Panel Version: 3.14
Sarah Leigh (Genomics England Curator)
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.Created: 12 Jan 2021, 3:08 p.m. | Last Modified: 28 Jan 2021, 5:58 p.m.
Panel Version: 2.21
Anna Sarkozy (Great Ormond Street Hospital)
de novo mutations in this gene have now been identified in at least 6 unrelated families. these findings have been presented at the world muscle society congress 2020 by the group of Carsten Bonnemann. a full publication is currently in progress. for more details see https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltextCreated: 8 Dec 2020, 2:24 p.m. | Last Modified: 8 Dec 2020, 2:24 p.m.
Panel Version: 2.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- oculopharyngodistal myopathy
- muscular dystrophy
- congenital myopathy
- OMIM
- 600124
- Clinvar variants
- Variants in HNRNPA2B1
- Penetrance
- None
- Publications
-
- https://www.nmd-journal.com/article/S0960-8966(20)30203-0/fulltext
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist was removed from gene: HNRNPA2B1.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: HNRNPA2B1.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)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)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag watchlist tag was added to gene: HNRNPA2B1. Tag for-review tag was added to gene: HNRNPA2B1.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: HNRNPA2B1 were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: HNRNPA2B1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Anna Sarkozy (Great Ormond Street Hospital)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