Genomics England

UQCRFS1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

OMIM: 191327

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Green in Mitochondrial disorder with complex III deficiency R-numbers: R355 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775