Childhood onset hereditary spastic paraplegia
Gene: HACE1
Childhood onset.Created: 9 May 2019, 5:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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 paraplegiaCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Onset in infancyCreated: 25 Feb 2019, 11:35 a.m.
Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.Created: 14 Jan 2019, 9:40 a.m.
Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.Created: 8 Jan 2019, 2:55 p.m.
Publications for gene: HACE1 were set to 26424145; 26437029
Source Yorkshire and North East GLH was added to HACE1.
Source NHS GMS was added to HACE1.
Source London North GLH was added to HACE1.
Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; seizure; psychomotor retardation for gene: HACE1 Publications for gene HACE1 were changed from 26437029; 26424145 to 26424145; 26437029 Rating Changed from Green List (high evidence) to Green List (high evidence)
Rebecca Foulger: Comment on list classification
Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756 to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia; seizure
Gene: hace1 has been classified as Green List (High Evidence).
Gene: hace1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure to psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
gene: HACE1 was added gene: HACE1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26437029; 26424145 Phenotypes for gene: HACE1 were set to psychomotor retardation; Spastic paraplegia; seizure