Childhood onset hereditary spastic paraplegia
Gene: ALDH18A1EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Range of onset. Both dominant and recessive families reported.Created: 3 May 2019, 3:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586, Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150 ; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9
Arianna Tucci (Genomics England Curator)
Spastic paraplegia 9A, autosomal dominant :onset variable, erly onset described
Spastic paraplegia 9B, autosomal recessive, early onsetCreated: 14 Jan 2019, 4:08 p.m.
Details
- Mode of Inheritance
- 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
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Mitochondrial disorders
- DDG2P
- 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
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ALDH18A1 were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ALDH18A1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ALDH18A1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to ALDH18A1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added 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 for gene: ALDH18A1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: Spastic paraplegia 9A, autosom
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ALDH18A1 were changed from ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant, 601162; Spastic paraplegia 9B, autosomal recessive, 616586
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: ALDH18A1 was added gene: ALDH18A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant