Mitochondrial disorders
Gene: ALDH18A1EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Cutis laxa, autosomal dominant 3 616603, Spastic paraplegia 9A, autosomal dominant 601162 and MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES. At least 16 variants reported.Created: 5 Aug 2019, 10:38 a.m. | Last Modified: 5 Aug 2019, 10:38 a.m.
Panel Version: 1.423
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Publications
Details
- Sources
-
- Expert list
- Phenotypes
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- 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
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- None
- Publications
- Panels with this gene
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- Thoracic aortic aneurysm or dissection (GMS)
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Hyperammonaemia
- Corneal abnormalities
- Ehlers Danlos syndrome with a likely monogenic cause
- Mitochondrial disorders
- Pneumothorax - familial
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Thoracic aortic aneurysm or dissection
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ALDH18A1 were changed from to 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ALDH18A1 were set to
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: ALDH18A1 was added gene: ALDH18A1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: ALDH18A1 was set to