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Motor Neurone Disease

Gene: HNRNPA1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported.
Created: 4 May 2022, 5:44 a.m. | Last Modified: 4 May 2022, 5:44 a.m.
Panel Version: 0.134

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 20 MIM#615426

Publications

Created: 4 May 2022, 5:44 a.m.
Last Modified: 4 May 2022, 5:44 a.m.
Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 20 MIM#615426
OMIM
164017
Clinvar variants
Variants in HNRNPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hnrnpa1 has been classified as Green List (High Evidence).

4 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HNRNPA1 were changed from to Amyotrophic lateral sclerosis 20 MIM#615426

4 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HNRNPA1 were set to

4 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HNRNPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HNRNPA1 was added gene: HNRNPA1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: HNRNPA1 was set to Unknown