Genomics England
GMS Panels
Panels
Genes and Entities

NMNAT1

nicotinamide nucleotide adenylyltransferase 1
OMIM: 608700
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEBER CONGENITAL AMAUROSIS 608553
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 9, 608553