Genomics England
GMS Panels
Panels
Genes and Entities

NARP syndrome or maternally inherited Leigh syndrome (Version: )

Relevant disorders: R351
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
See this panel in PanelApp
2 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
MT-ATP6
MITOCHONDRIALN/Agene-checked, limit of detection for heteroplasmic variants is not validated for WGS testing
Green
MT-ND6
MITOCHONDRIALN/Agene-checked, limit of detection for heteroplasmic variants is not validated for WGS testing