Genomics England
GMS Panels
Panels
Genes and Entities

COQ8B

coenzyme Q8B
OMIM: 615567
PanelMode of inheritanceDetails
5 panels
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 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9, 615573
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9 #615573
Green
in Retinal disorders
R-numbers: R32
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200