Congenital myopathy
Gene: HNRNPA1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Comment when marking as ready: Adult onset myopathy described in single family. Also reported in small number of cases in relation to ALS. Not appropriate for congenital myopathy panel.Created: 3 Feb 2017, 12:02 p.m.
Adult onset myopathy described in single family. Also reported in small number of cases in relation to ALS. Not appropriate for congenital myopathy panel.Created: 30 Jan 2017, 4:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia; Amyotrophic lateral sclerosis 20 615426
Phenotypes for gene: HNRNPA1 were changed from ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal to ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for HNRNPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
HNRNPA1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen