MPV17

MPV17, mitochondrial inner membrane protein
OMIM: 137960
PanelMode of inheritanceDetails
9 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
R-numbers: R78
Signed-off version 4.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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
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
R-numbers: R352
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
R-numbers: R317
Signed-off version 1.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
R-numbers: R438
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810