AIFM1

apoptosis inducing factor mitochondria associated 1
OMIM: 300169
PanelMode of inheritanceDetails
5 panels
R-numbers: R78
Signed-off version 1.36
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined oxidative phosphorylation deficiency 6, Cowchock syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Disorders of mitochondrial apoptosis, Cowchock syndrome, 310490, Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Combined oxidative phosphorylation deficiency 6, 300816
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined oxidative phosphorylation deficiency 6, 300816Cowchock syndrome, 310490, COWCHOCK SYNDROME
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Disorders of mitochondrial apoptosis, Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490
R-numbers: R63
Signed-off version 1.17
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined oxidative phosphorylation deficiency 6, 300816