Genomics England
GMS Panels
Panels
Genes and Entities

NAXD

NAD(P)HX dehydratase
OMIM: 615910
PanelMode of inheritanceDetails
1 panel
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321