Genomics England
GMS Panels
Panels
Genes and Entities
ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1
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Panel
Mode of inheritance
Details
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Arthrogryposis
R-numbers:
R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100