Genomics England

MPV17

MPV17, mitochondrial inner membrane protein

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA Depletion Syndrome, Disorders of mitochondrial DNA maintenance and integrity, Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of mitochondrial DNA maintenance and integrity, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3, Mitochondrial DNA Depletion Syndrome
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Green in Mitochondrial liver disease, including transient infantile liver failure R-numbers: R317 Signed-off version 1.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Green in Paediatric pseudo-obstruction syndrome R-numbers: R438 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810