Amyotrophic lateral sclerosis/motor neuron disease
Gene: HNRNPA1Comment on list classification: Expert review greenCreated: 19 Dec 2016, 3:04 p.m.
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
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.
Mode of inheritance for HNRNPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
HNRNPA1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
HNRNPA1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen