BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
OMIM: 603647
PanelMode of inheritanceDetails
13 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, 256000, Bjornstad syndrome, 262000, Mitochondrial complex III deficiency, nuclear type 1, 124000
Green
in Cholestasis
R-numbers: R171
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis, GRACILE syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GRACILE SYNDROME 603358
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GRACILE SYNDROME, GRACILE syndrome, 603358
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 1 124000, Leigh syndrome 256000, GRACILE syndrome 603358
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#124000:Mitochondrial complex III deficiency, nuclear type 1, #256000:Leigh syndrome, #262000:Bjornstad syndrome, #603358:GRACILE syndrome
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
Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Mitochondrial Diseases, Isolated complex III deficiency, Mitochondrial Respiratory Chain Complex III Deficiency, Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000, Bjornstad syndrome, 262000, GRACILE syndrome, 603358
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000, Bjornstad syndrome, 262000
R-numbers: R355
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex III deficiency, Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000, Bjornstad syndrome, 262000, GRACILE syndrome, 603358, Mitochondrial Diseases, Mitochondrial Respiratory Chain Complex III Deficiency
R-numbers: R317
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III disorders, Mitochondrial Leukoencephalopathy