1. Genes and Genomic Entities
  2. BCS1L

BCS1L

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

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Amber BCS1L in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

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 - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex III disorders
    • Mitochondrial Leukoencephalopathy
    Green BCS1L in Cholestasis


    Version 3.4
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Cholestasis
    • GRACILE syndrome
    Green BCS1L in Mitochondrial liver disease, including transient infantile liver failure


    Version 1.12
    Latest signed off version: v1.9 (22 Mar 2023)

    		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 1.39

    		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 1.180

    		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


    Version 2.5
    Latest signed off version: v2.0 (22 Mar 2023)

    		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 1.617

    		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 - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		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


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GRACILE SYNDROME
    • GRACILE syndrome, 603358
    Green BCS1L in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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 Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		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


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		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
    Green BCS1L in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bjornstad syndrome, 262000
    • GRACILE syndrome, 603358
    • Mitochondrial complex III deficiency, nuclear type 1, 124000
    • Leigh syndrome, 256000
    Red BCS1L in Paediatric pseudo-obstruction syndrome


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 1, OMIM:124000