Hereditary spastic paraplegia
Gene: ALDH18A1EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was previously known as SPG9A and SPG9B.Created: 10 May 2016, 2:38 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Other
- 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
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Hereditary spastic paraplegia, adult onset
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Pneumothorax - familial
- Hyperammonaemia
- Dystonia, chorea or related movement disorder, childhood onset
- Corneal abnormalities
- Hereditary neuropathy or pain disorder
- Ehlers Danlos syndrome with a likely monogenic cause
- Hereditary spastic paraplegia, childhood onset
- Neurodegenerative disorders, adult onset
- Thoracic aortic aneurysm or dissection (GMS)
- Hereditary spastic paraplegia
- Fetal anomalies
- Structural eye disease
- Thoracic aortic aneurysm or dissection
- DDG2P
- Mitochondrial disorders
- Intellectual disability
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for ALDH18A1 were set to 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
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for ALDH18A1 were set to 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
Added New Source
Ellen McDonagh (Genomics England Curator)ALDH18A1 was added to Hereditary spastic paraplegiapanel. Sources: Literature,Other
Created
Ellen McDonagh (Genomics England Curator)ALDH18A1 was created by ellenmcdonagh