Genomics England
GMS Panels
Panels
Genes and Entities
ASCC3
activating signal cointegrator 1 complex subunit 3
OMIM:
614217
See this entity in PanelApp
Panel
Mode of inheritance
Details
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Congenital myopathy
Component of the following Super Panels:
- Hypotonic infant
- Other rare neuromuscular disorders
R-numbers:
R81
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy, MONDO:0019952