PSAT1

phosphoserine aminotransferase 1
OMIM: 610936
PanelMode of inheritanceDetails
2 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
?Phosphoserine aminotransferase deficiency 610992, Neu-Laxova syndrome 2 616038
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 2 616038