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

BCS1L

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

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green BCS1L in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

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 2.0

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 2.0

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 2.0

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

Green BCS1L in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green BCS1L in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green BCS1L in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

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 2.0

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

Green BCS1L in Leukodystrophy


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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 1.0

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 1.0

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

Green BCS1L in Hair disorders


Level 2: Dermatological disorders
Version 1.0

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 1.0

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 1.0

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 2.0

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 2.0

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 3.0

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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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 2.0

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 3.0

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