PSAT1

phosphoserine aminotransferase 1
OMIM: 610936, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

No list PSAT1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neu-Laxova syndrome 2, MIM# 616038

Green PSAT1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Neu-Laxova syndrome 2 616038

Green PSAT1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Phosphoserine aminotransferase deficiency 610992
  • Neu-Laxova syndrome 2 616038

Green PSAT1 in Inborn errors of metabolism


Version 2.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Phosphoserine aminotransferase deficiency 610992
  • Neu-Laxova syndrome 2 616038

Amber PSAT1 in Fetal anomalies


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEU-LAXOVA SYNDROME
  • PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY

Amber PSAT1 in DDG2P


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992
  • NEU-LAXOVA SYNDROME 256520

Red PSAT1 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neu-Laxova syndrome 2, 616038

Amber PSAT1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review Not set
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services

Red PSAT1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY

Red PSAT1 in Childhood onset dystonia or chorea or related movement disorder


Version 1.0

review Not set
Sources
  • Expert Review Red
  • London North GLH