AIFM1

apoptosis inducing factor mitochondria associated 1
OMIM: 300169
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816, COWCHOCK SYNDROME 310490
R-numbers: R78
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Cowchock syndrome, OMIM:310490, Combined oxidative phosphorylation deficiency 6, OMIM:300816
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Cowchock syndrome, OMIM:310490, Combined oxidative phosphorylation deficiency 6, OMIM:300816, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
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
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:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Disorders of mitochondrial apoptosis, Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.39
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Deafness, X-linked 5, OMIM:300614
R-numbers: R63
Signed-off version 3.105
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined oxidative phosphorylation deficiency 6, 300816
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232