Genomics England
GMS Panels
Panels
Genes and Entities

KIAA0391

KIAA0391
OMIM: 609947
PanelMode of inheritanceDetails
2 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
Combined oxidative phosphorylation deficiency 54, OMIM:619737
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
Signed-off version 10.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 54, OMIM:619737