Genomics England
GMS Panels
Panels
Genes and Entities
NUP62
nucleoporin 62
OMIM:
605815
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Panel
Mode of inheritance
Details
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1 panel
Green
in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE STRIATONIGRAL DEGENERATION 271930