ALDH18A1

aldehyde dehydrogenase 18 family member A1
OMIM: 138250, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green ALDH18A1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150

Red ALDH18A1 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.20
Signed off v.2.17 on 3 Mar 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cutis laxa, autosomal dominant 3
  • Cutis laxa, autosomal recessive, type IIIA

Green ALDH18A1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.17
Signed off v.2.2 on 19 Feb 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Autosomal dominant cutis laxa-3 (ADCL3)
  • autosomal recessive cutis laxa type III (ARCL3)

Green ALDH18A1 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.7

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • cutis laxa, corneal clouding, and mental retardation
  • Cutis laxa, autosomal dominant 3 616603
  • Cutis laxa, autosomal recessive, type IIIA 219150

Red ALDH18A1 in Thoracic aortic aneurysm and dissection


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • South West GLH

Red ALDH18A1 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.112

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert list

Green ALDH18A1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.217

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • Spastic paraplegia 9A, autosomal dominant
  • Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3
  • ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
  • SPG9

Green ALDH18A1 in Hereditary spastic paraplegia - childhood onset


Version 2.19
Signed off v.2.18 on 8 Oct 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Literature
  • Expert Review Green
  • Other
Phenotypes
  • Spastic paraplegia 9B, autosomal recessive, 616586
  • SPG9
  • Spastic paraplegia 9A, autosomal dominant, 601162
  • ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
  • Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3

Green ALDH18A1 in Hereditary spastic paraplegia - adult onset


Version 1.13
Signed off v.1.12 on 15 Oct 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 9B, autosomal recessive 616586
  • SPG9
  • ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
  • Cutis laxa, autosomal dominant 3 616603
  • Spastic paraplegia 9A, autosomal dominant 601162
  • Cutis laxa, autosomal recessive, type IIIA 219150

Red ALDH18A1 in Neurodegenerative disorders - adult onset


Version 2.32
Signed off v.2.31 on 8 Oct 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 9A, autosomal dominant
  • ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
  • Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3
  • SPG9

Green ALDH18A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.425

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism)
  • Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150

Green ALDH18A1 in Inborn errors of metabolism


Version 2.24
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 list
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism)
    • Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150

    Green ALDH18A1 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.4
    Signed off v.2.3 on 4 Mar 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIIA, 219150
    • Cutis laxa, autosomal dominant 3, 616603

    Green ALDH18A1 in Fetal anomalies


    Version 1.108
    Signed off v.1.92 on 21 Aug 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CUTIS LAXA, AUTOSOMAL DOMINANT 3
    • SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
    • MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES

    Green ALDH18A1 in DDG2P


    Version 2.11
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162
    • CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603
    • MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652

    Green ALDH18A1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.499
    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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIIA, 219150
    • SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT
    • SPG9

    Red ALDH18A1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.8
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert list
    Phenotypes
    • Cutis laxa, autosomal dominant 3 616603
    • Cutis laxa, autosomal recessive, type IIIA 219150
    • Spastic paraplegia 9A, autosomal dominant 601162
    • Spastic paraplegia 9B, autosomal recessive 616586

    Red ALDH18A1 in Structural eye disease


    Version 1.12
    Signed off v.1.3 on 4 Mar 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIIA, 219150

    Green ALDH18A1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.62
    Signed off v.1.58 on 6 Oct 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Cutis laxa, autosomal dominant 3 616603
    • Cutis laxa, autosomal recessive, type IIIA 219150
    • Spastic paraplegia 9A, autosomal dominant 601162
    • Spastic paraplegia 9B, autosomal recessive 616586

    Green ALDH18A1 in Severe Paediatric Disorders


    Version 1.12

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIIA, 219150
    • Spastic paraplegia 9A, autosomal dominant, 601162
    • Cutis laxa, autosomal dominant 3, 616603
    • Spastic paraplegia 9B, autosomal recessive, 616586