Hereditary spastic paraplegia

Gene: ALDH18A1

Green List (high evidence)

ALDH18A1 (aldehyde dehydrogenase 18 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 19 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

History Filter Activity

3 May 2018, Gel status: 3

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 0

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

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ALDH18A1 was added to Hereditary spastic paraplegiapanel. Sources: Literature,Other

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ALDH18A1 was created by ellenmcdonagh