Genomics England
GMS Panels
Panels
Genes and Entities

PSAT1

phosphoserine aminotransferase 1
OMIM: 610936
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992, NEU-LAXOVA SYNDROME 256520
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 2, OMIM:616038, Neu-Laxova syndrome 2, MONDO:0014466
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Phosphoserine aminotransferase deficiency 610992, Neu-Laxova syndrome 2 616038
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neu-Laxova syndrome 2 616038