ATP5G3

ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)
OMIM: 602736
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
R-numbers: R357
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
R-numbers: R63
Signed-off version 3.105
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681