Genomics England
GMS Panels
Panels
Genes and Entities
Niemann Pick disease type C (Version:
1.5
1.0
)
Relevant disorders:
R380
,
GT179
,
TP519
Signed off date:
12 Aug 2026
Panel types:
GMS Rare Disease, GMS signed-off
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2 green entities
Entity rating
Entity
Mode of inheritance
Mode of pathogenicity
Tags
Green
NPC1
BIALLELIC, autosomal or pseudoautosomal
N/A
N/A
Green
NPC2
BIALLELIC, autosomal or pseudoautosomal
N/A
N/A