AGK

acylglycerol kinase
OMIM: 610345
PanelMode of inheritanceDetails
7 panels
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Cataract, Sengers syndrome, 212350
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SENGERS SYNDROME 212350
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SENGERS SYNDROME
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Mitochondrial DNA depletion syndrome 10, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis), Sengers syndrome, 212350, Sengers syndrome 212350, Disorders of mitochondrial lipid metabolism, Cataract 38, autosomal recessive, 614691
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sengers syndrome, 212350, Mitochondrial DNA depletion syndrome 10, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Disorders of mitochondrial lipid metabolism, Cataract 38, autosomal recessive, 614691
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sengers syndrome, 212350
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350