BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
OMIM: 603647, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Amber BCS1L in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes GRACILE syndrome Cholestasis Tags watchlist
Green BCS1L in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex III disorders Mitochondrial Leukoencephalopathy
Green BCS1L in Cholestasis Level 2: Gastrohepatology Version 4.18 Latest signed off version: v4.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green NHS GMS Expert list Phenotypes Cholestasis GRACILE syndrome
Green BCS1L in Mitochondrial liver disease Level 2: Mitochondrial Version 1.17 Latest signed off version: v1.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000
Green BCS1L in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature
Green BCS1L in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial Leukoencephalopathy Mitochondrial complex III disorders
Green BCS1L in Mitochondrial disorder with complex III deficiency Level 2: Mitochondrial Version 2.14 Latest signed off version: v2.8 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000
Green BCS1L in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 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
Green BCS1L in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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
Green BCS1L in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.23 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000
Green BCS1L in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes GRACILE SYNDROME GRACILE syndrome, 603358
Green BCS1L in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GRACILE SYNDROME 603358
Green BCS1L in Monogenic hearing loss Level 2: Audiology Version 6.42 Latest signed off version: v6.34 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes #124000:Mitochondrial complex III deficiency, nuclear type 1 #256000:Leigh syndrome #262000:Bjornstad syndrome #603358:GRACILE syndrome
Green BCS1L in Early onset or syndromic epilepsy Level 2: Neurology Version 9.74 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 1 124000 Leigh syndrome 256000 GRACILE syndrome 603358
Green BCS1L in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000
Green BCS1L in Mitochondrial disorders Level 2: Mitochondrial Version 10.23 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Expert 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
Red BCS1L in Dystonia, chorea or related movement disorder, adult onset Level 2: Neurology Version 6.9 Latest signed off version: v6.7 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes Bjornstad syndrome, 262000 Leigh syndrome, 256000 Mitochondrial complex III deficiency, nuclear type 1, 124000
Red BCS1L in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 8.7 Latest signed off version: v8.4 (12 Aug 2026) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000
Green BCS1L in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Leigh syndrome, 256000 Bjornstad syndrome, 262000 Mitochondrial complex III deficiency, nuclear type 1, 124000
Red BCS1L in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.8 Latest signed off version: v2.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mitochondrial complex III deficiency, nuclear type 1, OMIM:124000

BCS1L

20 panels

Amber BCS1L in Neonatal cholestasis

Sources

Phenotypes

Tags

Green BCS1L in White matter disorders and cerebral calcification - childhood onset

Sources

Phenotypes

Green BCS1L in Cholestasis

Sources

Phenotypes

Green BCS1L in Mitochondrial liver disease

Sources

Phenotypes

Green BCS1L in Structural basal ganglia disorders

Sources

Green BCS1L in Inherited white matter disorders

Sources

Phenotypes

Green BCS1L in Mitochondrial disorder with complex III deficiency

Sources

Phenotypes

Green BCS1L in Undiagnosed metabolic disorders

Sources

Phenotypes

Green BCS1L in Likely inborn error of metabolism

Sources

Phenotypes

Green BCS1L in Possible mitochondrial disorder, nuclear genes

Sources

Phenotypes

Green BCS1L in Fetal anomalies

Sources

Phenotypes

Green BCS1L in DDG2P

Sources

Phenotypes

Green BCS1L in Monogenic hearing loss

Sources

Phenotypes

Green BCS1L in Early onset or syndromic epilepsy

Sources

Phenotypes

Green BCS1L in Intellectual disability

Sources

Phenotypes

Green BCS1L in Mitochondrial disorders

Sources

Phenotypes

Red BCS1L in Dystonia, chorea or related movement disorder, adult onset

Sources

Phenotypes

Red BCS1L in Paediatric or syndromic cardiomyopathy

Sources

Phenotypes

Green BCS1L in Dystonia, chorea or related movement disorder, childhood onset

Sources

Phenotypes

Red BCS1L in Paediatric pseudo-obstruction syndrome

Sources

Phenotypes