Childhood 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
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: 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: 28 Apr 2019, 4:16 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
Onset of SPG18 in infancy or childhoodCreated: 14 Jan 2019, 4:49 p.m.
Publications for gene: ERLIN2 were set to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983
Source Yorkshire and North East GLH was added to ERLIN2.
Source NHS GMS was added to ERLIN2.
Source London North GLH was added to ERLIN2.
Added phenotypes Spastic paraplegia, autosomal dominant; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia; neurodegeneration for gene: ERLIN2 Publications for gene ERLIN2 were changed from 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983
Arianna Tucci: Onset of SPG18 in infancy or c
gene: ERLIN2 was added gene: ERLIN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia, autosomal dominant