Genomics England
GMS Panels
Panels
Genes and Entities
DNAJB4
DnaJ heat shock protein family (Hsp40) member B4
OMIM:
611327
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Panel
Mode of inheritance
Details
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Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
- Hypotonic infant
- Other rare neuromuscular disorders
R-numbers:
R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy with early respiratory failure