Congenital myopathy

Gene: HNRNPA2B1

Amber List (moderate evidence)

HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1)
EnsemblGeneIds (GRCh38): ENSG00000122566
EnsemblGeneIds (GRCh37): ENSG00000122566
OMIM: 600124, Gene2Phenotype
HNRNPA2B1 is in 3 panels

2 reviews

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)

Green List (high evidence)

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/fulltext
Created: 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
  • Expert Review Amber
Phenotypes
  • oculopharyngodistal myopathy
  • muscular dystrophy
  • congenital myopathy
Tags
watchlist for-review
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

12 Jan 2021, Gel status: 2

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.

12 Jan 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HNRNPA2B1 were set to

12 Jan 2021, Gel status: 2

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

12 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).

8 Dec 2020, Gel status: 0

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