Adult onset hereditary spastic paraplegia
Gene: ERLIN2
Biallelic inheritance shows childhood onset. Report of monoallelic inheritance (PMID: 29528531); patients presenting with pure spastic paraplegia with age of onset between 9 and 46 years.Created: 9 May 2019, 12:58 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.
Victoria: early childhood onset. Present with severe psychomotor retardation. Published in 2 unrelated consanguineous famlies - (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. recently (2018) two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant were described PMID:29528531 In Sheffields HSPpanel.Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration.
Publications for gene: ERLIN2 were set to
Source Yorkshire and North East GLH was added to ERLIN2.
Source Expert Review Green was added to ERLIN2. Mode of inheritance for gene ERLIN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia, autosomal dominant; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia for gene: ERLIN2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to ERLIN2.
gene: ERLIN2 was added gene: ERLIN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ERLIN2 was set to