PUS1

pseudouridylate synthase 1
OMIM: 608109
PanelMode of inheritanceDetails
5 panels
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
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Mitochondrial myopathy and sideroblastic anemia 1, 600462
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
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462, Mitochondrial myopathy and sideroblastic anemia 1, MLASA, Intellectual disability
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Mitochondrial myopathy and sideroblastic anemia 1, 600462
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
600462 Myopathy, lactic acidosis, and sideroblastic anemia 1, Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462, 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia