Genomics England
GMS Panels
Panels
Genes and Entities
PSEN2
presenilin 2
OMIM:
600759
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Panel
Mode of inheritance
Details
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Adult onset neurodegenerative disorder
R-numbers:
R58
Signed-off version 6.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alzheimer disease-4, OMIM:606889, Alzheimer disease 4, MONDO:0011743