ALDH18A1

aldehyde dehydrogenase 18 family member A1
OMIM: 138250, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green ALDH18A1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	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 ALDH18A1-related de Barsy syndrome MONDO:0009053
Red ALDH18A1 in Pneumothorax - familial Level 2: Respiratory Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	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 Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndrome MONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Green ALDH18A1 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.14	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 or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	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 1.129	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 1.316	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 Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	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 Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	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 Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndrome MONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Green ALDH18A1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndrome MONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
Green ALDH18A1 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Illumina TruGenome Clinical Sequencing Services Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIIA, OMIM:219150 Cutis laxa, autosomal dominant 3, OMIM:616603
Green ALDH18A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150
Amber ALDH18A1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Spastic paraplegia 9A, autosomal dominant, OMIM:601162 hereditary spastic paraplegia 9A, MONDO:0011006 Spastic paraplegia 9B, autosomal recessive, OMIM:616586 autosomal recessive complex spastic paraplegia type 9B, MONDO:0014702
Green ALDH18A1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Cutis laxa, autosomal dominant 3 OMIM:616603 cutis laxa, autosomal dominant 3 MONDO:0014706 Cutis laxa, autosomal recessive, type IIIA OMIM:219150 ALDH18A1-related de Barsy syndromeMONDO:0009053 Spastic paraplegia 9A, autosomal dominant OMIM:601162 hereditary spastic paraplegia 9A MONDO:0011006 Spastic paraplegia 9B, autosomal recessive OMIM:616586 autosomal recessive complex spastic paraplegia type 9B MONDO:0014702

ALDH18A1

20 panels

Green ALDH18A1 in Hyperammonaemia

Sources

Phenotypes

Red ALDH18A1 in Pneumothorax - familial

Sources

Phenotypes

Green ALDH18A1 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green ALDH18A1 in Corneal abnormalities

Sources

Phenotypes

Red ALDH18A1 in Thoracic aortic aneurysm or dissection (GMS)

Sources

Red ALDH18A1 in Thoracic aortic aneurysm or dissection

Sources

Green ALDH18A1 in Hereditary spastic paraplegia

Sources

Phenotypes

Green ALDH18A1 in Childhood onset hereditary spastic paraplegia

Sources

Phenotypes

Green ALDH18A1 in Adult onset hereditary spastic paraplegia

Sources

Phenotypes

Red ALDH18A1 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green ALDH18A1 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green ALDH18A1 in Likely inborn error of metabolism

Sources

Phenotypes

Green ALDH18A1 in Ehlers Danlos syndrome with a likely monogenic cause

Sources

Phenotypes

Green ALDH18A1 in Fetal anomalies

Sources

Phenotypes

Green ALDH18A1 in DDG2P

Sources

Phenotypes

Green ALDH18A1 in Intellectual disability

Sources

Phenotypes

Red ALDH18A1 in Mitochondrial disorders

Sources

Phenotypes

Red ALDH18A1 in Structural eye disease

Sources

Phenotypes

Amber ALDH18A1 in Hereditary neuropathy or pain disorder

Sources

Phenotypes

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

Sources

Phenotypes