Genomics England
GMS Panels
Panels
Genes and Entities

ATP5G3

ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)
OMIM: 602736
PanelMode of inheritanceDetails
5 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Green
in Likely inborn error of metabolism - targeted testing not possible
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 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Green
in Mitochondrial disorder with complex V deficiency
R-numbers: R357
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681