Hereditary spastic paraplegia - adult onsetGene: HACE1
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
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.
Victoria-onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter. 14pts in 6 unrelated families with Spastic paraplegia
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Publications for gene: HACE1 were set to
Source Yorkshire and North East GLH was added to HACE1.
Source Expert Review Green was added to HACE1. Mode of inheritance for gene HACE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia for gene: HACE1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to HACE1.
gene: HACE1 was added gene: HACE1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: HACE1 was set to