BCS1L

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green BCS1L in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	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 1.1891	review	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 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	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 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	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 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green BCS1L in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green BCS1L in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	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 0.6063	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 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	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	review	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	review	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 1.63	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	review	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 0.192	review	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	review	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	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 1.255	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GRACILE syndrome, 603358 (3)
Red BCS1L in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	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 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	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 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GRACILE syndrome, 603358 (3)

BCS1L

21 panels

Green BCS1L in Cholestasis

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Phenotypes

Green BCS1L in Mendeliome

Sources

Phenotypes

Green BCS1L in Genetic Epilepsy

Sources

Phenotypes

Green BCS1L in Mitochondrial disease

Sources

Green BCS1L in Callosome

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Green BCS1L in Regression

Sources

Green BCS1L in Deafness_IsolatedAndComplex

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Phenotypes

Green BCS1L in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green BCS1L in Leukodystrophy - paediatric

Sources

Phenotypes

Green BCS1L in Ectodermal Dysplasia

Sources

Phenotypes

Green BCS1L in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green BCS1L in Deafness_Isolated

Sources

Phenotypes

Green BCS1L in Hair disorders

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Phenotypes

Red BCS1L in Cardiomyopathy_Paediatric

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Phenotypes

Green BCS1L in Additional findings_Paediatric

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Phenotypes

Green BCS1L in Liver Failure_Paediatric

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Phenotypes

Green BCS1L in Fetal anomalies

Sources

Phenotypes

Green BCS1L in Prepair 1000+

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Phenotypes

Red BCS1L in BabyScreen+ newborn screening

Sources

Phenotypes

Green BCS1L in Renal Tubulopathies and related disorders

Sources

Phenotypes

Green BCS1L in Prepair 500+

Sources

Phenotypes