Amyotrophic lateral sclerosis/motor neuron disease

Gene: HNRNPA1

Green List (high evidence)

HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1)
EnsemblGeneIds (GRCh38): ENSG00000135486
EnsemblGeneIds (GRCh37): ENSG00000135486
OMIM: 164017, Gene2Phenotype
HNRNPA1 is in 6 panels

3 reviews

Alice Gardham (Genomics England)

Comment on list classification: Expert review green
Created: 19 Dec 2016, 3:04 p.m.

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

23455423 describes monoallelic mutations in HNRNPA1 in one familial ALS. A few subsequent studies failed to replicate the finding on other familial ALS cohorts (23827524, 24119545, 24612671), but a recent study (27694260) describes one mutation in one Chinese family with ALS. Hence, very rare.
Monoallelic mutations also cause a multisystem proteinopathy manifesting as as frontotemporal lobar degeneration and/or amyotrophic lateral sclerosis and/or Paget disease of bone, and/or inclusion body myositis (23455423, 27066560).
Mutations could present as ALS or complex ALS

Created: 18 Dec 2016, 9:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on list classification: One case report and one family report - need to carry out a literature search for further evidence.
Created: 3 Nov 2016, 6:57 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
OMIM
164017
Clinvar variants
Variants in HNRNPA1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for HNRNPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 19th December 2016 following external review and internal curation

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

18 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HNRNPA1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen

18 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HNRNPA1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen