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Motor Neurone Disease

Gene: HNRNPA2B1

Amber List (moderate evidence)
HNRNPA2B1 (heterogeneous nuclear ribonucleoprotein A2/B1)
EnsemblGeneIds (GRCh38): ENSG00000122566
EnsemblGeneIds (GRCh37): ENSG00000122566
OMIM: 600124, Gene2Phenotype
HNRNPA2B1 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes
Created: 21 Aug 2023, 6:48 a.m. | Last Modified: 21 Aug 2023, 6:48 a.m.
Panel Version: 0.194
Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes
Created: 21 Aug 2023, 6:48 a.m. | Last Modified: 21 Aug 2023, 6:48 a.m.
Panel Version: 0.194
Limited gene-disease validity assessment by ALS spectrum disorder GCEP - 15/12/2021. Only one variant in a single ALS proband scored.
Sources: ClinGen
Created: 22 Jun 2023, 1:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amyotrophic lateral sclerosis MONDO:0004976

Publications

Created: 22 Jun 2023, 1:33 a.m.
Last Modified: 21 Aug 2023, 6:48 a.m.
Panel version: 0.185

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976
OMIM
600124
Clinvar variants
Variants in HNRNPA2B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hnrnpa2b1 has been classified as Red List (Low Evidence).

22 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Motor Neurone Disease. Sources: ClinGen Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA2B1 were set to 25299611 Phenotypes for gene: HNRNPA2B1 were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: HNRNPA2B1 was set to RED