AASS

aminoadipate-semialdehyde synthase
OMIM: 605113, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber AASS in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperlysinemia, MIM# 238700
Tags
  • disputed

Amber AASS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Hyperlysinemia, MIM# 238700
Tags
  • disputed

Amber AASS in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperlysinemia, MIM# 238700
    Tags
    • disputed

    Red AASS in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hyperlysinemia (disease), MONDO:0009388
    • Hyperlysinemia, OMIM:238700

    Green AASS in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • hyperlysinemia MONDO:0009388