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:
  • - 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
Nephrotic syndrome, type 9
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
Signed-off version 10.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9
Green
in Possible mitochondrial disorder, nuclear genes
R-numbers: R63
Signed-off version 5.17
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 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9 #615573
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200