Genomics England

APOPT1

apoptogenic 1, mitochondrial

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
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 IV deficiency, nuclear type 17, OMIM:619061
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 Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061, Isolated complex IV deficiency
Green in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061, Isolated complex IV deficiency
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
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 IV deficiency, nuclear type 17, OMIM:619061