Segmental or atypical neurofibromatosis type 1 testing (Version: )

Relevant disorders: R376
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A