ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2
OMIM: 608918
PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
R-numbers: R357
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273