Genomics England
GMS Panels
Panels
Genes and Entities

IDH3A

isocitrate dehydrogenase 3 (NAD(+)) alpha
OMIM: 601149
PanelMode of inheritanceDetails
4 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 90, OMIM:619007, retinitis pigmentosa 90, MONDO:0033563
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
Signed-off version 10.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 90, OMIM:619007, retinitis pigmentosa 90, MONDO:0033563
Green
in Possible mitochondrial disorder, nuclear genes
R-numbers: R63
Signed-off version 5.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 90, OMIM:619007, retinitis pigmentosa 90, MONDO:0033563
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 90, OMIM:619007, retinitis pigmentosa 90, MONDO:0033563