Childhood onset hereditary spastic paraplegia

Gene: ERLIN2

Green List (high evidence)

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

• 21330303
• 21796390
• 29691679
• 29528531

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Green List (high evidence)

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 childhood

Created: 14 Jan 2019, 4:49 p.m.