Adult onset hereditary spastic paraplegia
Gene: ALDH18A1
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
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
In sheffields HSP panelCreated: 25 Apr 2019, 1:22 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
Publications for gene: ALDH18A1 were set to
Source Yorkshire and North East GLH was added to ALDH18A1.
Source Expert Review Green was added to ALDH18A1. Mode of inheritance for gene ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 9B, autosomal recessive 616586; SPG9; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Cutis laxa, autosomal dominant 3 616603; Spastic paraplegia 9A, autosomal dominant 601162; Cutis laxa, autosomal recessive, type IIIA 219150 for gene: ALDH18A1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to ALDH18A1.
gene: ALDH18A1 was added gene: ALDH18A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ALDH18A1 was set to