Genomics England
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Genes and Entities
Segmental or atypical neurofibromatosis type 1 testing (Version:
1.4
1.0
)
Relevant disorders:
R376
,
GT1270
,
TP251
Signed off date:
12 Aug 2026
Panel types:
GMS Rare Disease, GMS signed-off
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1 green entities
Entity rating
Entity
Mode of inheritance
Mode of pathogenicity
Tags
Green
NF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
N/A
N/A