PSAT1

phosphoserine aminotransferase 1
OMIM: 610936, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red PSAT1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.22

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

Green PSAT1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • 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 1.418

    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 2.15
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • ?Phosphoserine aminotransferase deficiency 610992
    • Neu-Laxova syndrome 2 616038

    Green PSAT1 in Fetal anomalies


    Version 1.74
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Neu-Laxova syndrome 2, 616038
    • NEU-LAXOVA SYNDROME
    • PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY

    Amber PSAT1 in DDG2P


    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • 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 2.3
    Signed off v.2.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • 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 2.143
    Signed off v.2.2 on 13 Feb 2020

    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 3.246
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.8
    Signed off v.1.2 on 25 Feb 2020

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

    Green PSAT1 in Severe Paediatric Disorders


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neu-Laxova syndrome 2, 616038
    • ?Phosphoserine aminotransferase deficiency, 610992