Genomics England
GMS Panels
Panels
Genes and Entities

ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2
OMIM: 608918
PanelMode of inheritanceDetails
4 panels
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273, Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Mitochondrial Diseases, Isolated complex V deficiency, Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Green
in Mitochondrial disorder with complex V deficiency
R-numbers: R357
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex V deficiency, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273, Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type, Mitochondrial Diseases
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.69
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273