Genomics England
GMS Panels
Panels
Genes and Entities

NNT

nicotinamide nucleotide transhydrogenase
OMIM: 607878
PanelMode of inheritanceDetails
2 panels
Green
in Congenital adrenal hypoplasia
R-numbers: R150
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia, Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736