Neurodegenerative disorders - adult onsetGene: HNRNPA2B1
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
One family reported with supporting functional work. Small number of additional variants in sporadic cases. No additional clearly pathogenic variants using Sheffield panel.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amyotrophic lateral sclerosis
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HNRNPA2B1 were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976; ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
Mode of inheritance for gene HNRNPA2B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis for gene: HNRNPA2B1 Publications for gene HNRNPA2B1 were changed from to 25299611; 23455423; 27773581
Source NHS GMS was added to HNRNPA2B1.
Source Yorkshire and North East GLH was added to HNRNPA2B1.
gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: HNRNPA2B1 was set to