HNRNPA2B1

Green HNRNPA2B1 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Research
• Expert list
• Other

Phenotypes

• Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422

Green HNRNPA2B1 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Literature
• Expert list

Phenotypes

• oculopharyngodistal myopathy
• muscular dystrophy
• congenital myopathy

Amber HNRNPA2B1 in Adult onset neurodegenerative disorder

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• Yorkshire and North East GLH
• Expert Review Amber

Phenotypes

• Amyotrophic lateral sclerosis, MONDO:0004976
• ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422

Green HNRNPA2B1 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Early-onset oculopharyngeal muscular dystrophy