Adult 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

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.

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: 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.