ALDH3A2

aldehyde dehydrogenase 3 family member A2
OMIM: 609523, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green ALDH3A2 in Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
Green ALDH3A2 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.17
Latest signed off version: v4.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
Green ALDH3A2 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Green ALDH3A2 in Palmoplantar keratodermas


    Level 2: Dermatology
    Version 4.17
    Latest signed off version: v4.16 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    Green ALDH3A2 in Leukodystrophy, adult onset


    Level 2: Neurology
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    Green ALDH3A2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Green ALDH3A2 in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.8
    Latest signed off version: v9.7 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    Green ALDH3A2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    Green ALDH3A2 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    Green ALDH3A2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SJOEGREN-LARSSON SYNDROME
    Green ALDH3A2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SJOEGREN-LARSSON SYNDROME 270200
    Red ALDH3A2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.513

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies
    Green ALDH3A2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    Green ALDH3A2 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.15
    Latest signed off version: v9.14 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Sjogren-Larsson syndrome, OMIM:270200
    Red ALDH3A2 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.30 (12 Aug 2026)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hereditary Neuropathies
    Red ALDH3A2 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

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