Hereditary neuropathy or pain disorder
Gene: ALDH18A1EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
ALDH18A1 variants have been associated with spastic paraplegia 9A, autosomal dominant (OMIM:601162) and spastic paraplegia 9B, autosomal recessive (OMIM:616586). Neuropathy has only been associated with two ALDH18A1 variants in two families (PMID: 26026163).Created: 22 Oct 2024, 3:58 p.m. | Last Modified: 22 Oct 2024, 3:58 p.m.
Panel Version: 5.57
Alexander Rossor (UCL Institute of Neurology)
Currently present in several members of two unrelated families
Sources: Expert listCreated: 14 Oct 2024, 8:35 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
spastic paraplegia; cognitive impairment; motor neuronopathy
Publications
- https://doi.org/10.1093/brain/awv143
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- 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
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- Hyperammonaemia
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Pneumothorax - familial
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Adult onset hereditary spastic paraplegia
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: aldh18a1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ALDH18A1 were changed from spastic paraplegia; cognitive impairment; motor neuronopathy to 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: ALDH18A1 was added gene: ALDH18A1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to https://doi.org/10.1093/brain/awv143 Phenotypes for gene: ALDH18A1 were set to spastic paraplegia; cognitive impairment; motor neuronopathy Penetrance for gene: ALDH18A1 were set to Complete Review for gene: ALDH18A1 was set to AMBER