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Early-onset Dementia

Gene: HNRNPA1

Amber List (moderate evidence)
HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000135486
EnsemblGeneIds (GRCh37): ENSG00000135486
OMIM: 164017, Gene2Phenotype
HNRNPA1 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Comment on list classification: Included as an amber gene because the gene is associated with multisystem proteinopathy, which FTD can be a feature. No FTD has been reported in association with this gene.
Created: 21 Aug 2023, 5:31 a.m. | Last Modified: 21 Aug 2023, 5:31 a.m.
Panel Version: 0.219
I cannot find any evidence that pathogenic variants in this gene cause dementia. The conditions associated with the gene are a pure ALS without FTD and myopathy.
Sources: Other
Created: 19 Aug 2020, 11:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424; Amyotrophic lateral sclerosis 20 MIM#615426

Publications

Created: 19 Aug 2020, 11:29 p.m.

Panel version: 0.61

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424
  • Amyotrophic lateral sclerosis 20 MIM#615426
OMIM
164017
Clinvar variants
Variants in HNRNPA1
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: hnrnpa1 has been classified as Amber List (Moderate Evidence).

19 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hnrnpa1 has been classified as Red List (Low Evidence).

19 Aug 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HNRNPA1 was added gene: HNRNPA1 was added to Early-onset Dementia. Sources: Other Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA1 were set to 24612671; 24119545; 23455423 Phenotypes for gene: HNRNPA1 were set to Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424; Amyotrophic lateral sclerosis 20 MIM#615426 Review for gene: HNRNPA1 was set to RED