Adult onset hereditary spastic paraplegia
Gene: SPAST
Adult and childhood onsetCreated: 10 May 2019, 9:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 current HSP panel + In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 4, autosomal dominant, 182601
Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant, 182601 to Spastic paraplegia 4, autosomal dominant, OMIM:182601; hereditary spastic paraplegia 4, MONDO:0008438
Publications for gene: SPAST were set to 16240363; 15248095
Publications for gene: SPAST were set to
Source Yorkshire and North East GLH was added to SPAST.
Source Expert Review Green was added to SPAST. Mode of inheritance for gene SPAST was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SPAST.
gene: SPAST was added gene: SPAST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPAST was set to