Genomics England

AGK

acylglycerol kinase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital Cataract, Sengers syndrome, 212350
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SENGERS SYNDROME 212350
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SENGERS SYNDROME
Green in Likely inborn error of metabolism 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 5.6	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
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	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
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sengers syndrome, 212350
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350