SLC25A1

solute carrier family 25 member 1
OMIM: 190315
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 23, presynaptic, 618197
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria, 615182, Disorders of mitochondrial protein transport, Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of mitochondrial protein transport, Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 23, presynaptic, 618197, Combined D-2- and L-2-hydroxyglutaric aciduria, 615182