PanelApp (staging)
  1. Genes and Genomic Entities
  2. BCS1L

BCS1L

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

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green BCS1L in Cholestasis


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • GRACILE syndrome, MIM# 603358
    • Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400

    Green BCS1L in Mendeliome


    Version 1.2302

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bjornstad syndrome MIM#262000
    • GRACILE syndrome, MIM#603358
    • Mitochondrial complex III deficiency, nuclear type MIM#112400

    Green BCS1L in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bjornstad syndrome, MIM# 262000
    • Leigh syndrome, MIM# 256000
    • BCS1L-related mitochondrial disease

    Green BCS1L in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.969

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews Unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green BCS1L in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BCS1L in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BCS1L in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.210

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bjornstad syndrome, MIM# 262000
    • Leigh syndrome, MIM# 256000
    • BCS1L-related mitochondrial disease

    Green BCS1L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Bjornstad syndrome MONDO:0009872

    Green BCS1L in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex III disorders
    • Mitochondrial Leukoencephalopathy

    Green BCS1L in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.86

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bjornstad syndrome MIM#262000

    Green BCS1L in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • GRACILE syndrome, 603358 (3)

    Green BCS1L in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.67

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bjornstad syndrome, MIM# 262000
    • SNHL and pili torti

    Green BCS1L in Hair disorders


    Level 2: Dermatological disorders
    Version 0.71

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bjornstad syndrome, 262000

    Red BCS1L in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Leigh syndrome, 256000
    • Mitochondrial complex III deficiency, nuclear type 1, 124000

    Green BCS1L in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Complex 3 deficiency

    Green BCS1L in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • GRACILE syndrome, MIM# 603358
    • Mitochondrial complex III deficiency, nuclear type 1 , MIM#112400

    Green BCS1L in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Bjornstad syndrome, MIM# 262000
    • Leigh syndrome, MIM# 256000
    • BCS1L-related mitochondrial disease

    Green BCS1L in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • GRACILE syndrome, MIM#603358
    • Mitochondrial complex III deficiency, nuclear type 1, MIM#124000

    Red BCS1L in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Bjornstad syndrome, MIM# 262000
    • Leigh syndrome, MIM# 256000
    • BCS1L-related mitochondrial disease

    Green BCS1L in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.17

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_MetabolicRenal v38.1.0
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Royal Melbourne Hospital
    • KidGen_MetabolicRenal v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type MIM#112400
    • Bjornstad syndrome MIM#262000
    • GRACILE syndrome, MIM#603358

    Green BCS1L in Prepair 500+


    Level 2: Screening
    Version 1.5

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • GRACILE syndrome, 603358 (3)