Genomics England
GMS Panels
Panels
Genes and Entities

COQ8B

coenzyme Q8B
OMIM: 615567
PanelMode of inheritanceDetails
5 panels
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 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9, 615573
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 2.32
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9 #615573
Green
in Unexplained paediatric onset end-stage renal disease
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9 615573