Genomics England

LYRM7

LYR motif containing 7

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 8, MIM#615838
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 8, Isolated complex III deficiency, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle, leukoencephalopathy and complex III deficiency, 615838
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 8, 615838
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex III deficiency, Mitochondrial complex III deficiency, nuclear type 8, 615838, leukoencephalopathy and complex III deficiency, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
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 8, 615838
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 8, leukoencephalopathy and complex III deficiency, 615838, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle