SERAC1

serine active site containing 1
OMIM: 614725
PanelMode of inheritanceDetails
7 panels
R-numbers: R57
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739, Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
R-numbers: R67
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739