Genomics England

BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Cholestasis R-numbers: R171 Signed-off version 4.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cholestasis, GRACILE syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GRACILE SYNDROME 603358
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, 256000, Bjornstad syndrome, 262000, Mitochondrial complex III deficiency, nuclear type 1, 124000
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 1 124000, Leigh syndrome 256000, GRACILE syndrome 603358
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GRACILE SYNDROME, GRACILE syndrome, 603358
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000, Bjornstad syndrome, 262000
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	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 in Mitochondrial disorder with complex III deficiency R-numbers: R355 Signed-off version 2.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	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
Green in Mitochondrial liver disease R-numbers: R317 Signed-off version 1.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 6.34	BIALLELIC, autosomal or pseudoautosomal	Phenotypes #124000:Mitochondrial complex III deficiency, nuclear type 1, #256000:Leigh syndrome, #262000:Bjornstad syndrome, #603358:GRACILE syndrome
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III disorders, Mitochondrial Leukoencephalopathy