ALDH4A1

aldehyde dehydrogenase 4 family member A1
OMIM: 606811, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ALDH4A1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperprolinemia, type II MIM#239510
  • disorders of ornithine or proline metabolism

Green ALDH4A1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hyperprolinemia, type II MIM#239510
  • disorders of ornithine or proline metabolism

Red ALDH4A1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hyperprolinemia, type II

Green ALDH4A1 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 Green
    • NHS GMS
    Phenotypes
    • Hyperprolinemia, type II MIM#239510
    • disorders of ornithine or proline metabolism

    Red ALDH4A1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Hyperprolinaemia, type II, MIM# 239510

    Green ALDH4A1 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
    • hyperprolinemia type 2 MONDO:0009401

    Green ALDH4A1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Hyperprolinemia, type II MIM#239510
    Tags
    • treatable
    • metabolic