Genomics England
GMS Panels
Panels
Genes and Entities

HNRNPA2B1

heterogeneous nuclear ribonucleoprotein A2/B1
OMIM: 600124
PanelMode of inheritanceDetails
3 panels
Green
in Congenital muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R79
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
oculopharyngodistal myopathy, muscular dystrophy, congenital myopathy
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early-onset oculopharyngeal muscular dystrophy