Hereditary spastic paraplegia

Gene: ERLIN2

Comment on list classification: Changed from Red to Green added publications that support gene-disease association

Created: 10 Aug 2018, 3:49 p.m.

Comment on phenotypes: added Spastic paraplegia autosomal dominant and hereditary spastic paraplegia; neurodegeneration; as there has recently been reported monoallelic cases PMID:29528531

Created: 10 Aug 2018, 3:25 p.m.

Comment on mode of inheritance: Changed to BOTH monoallelic and biallelic : Biallelic variants in ERLIN2 are known to cause recessive HSP type SPG18 (PMID:21330303, 21796390, 23085305) but recently (2018) two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant were described PMID:29528531

Created: 10 Aug 2018, 3:21 p.m.

Comment on publications: added publications to support Hereditary spastic paraplegia (HSP) phenotype - initial candidate gene case described in PMID: 21937992 there are more than unrelated families who have been reported on inactivating ERLIN2 mutations in patients with recessive intellectual disability and progressive motor dysfunction PMID: 21330303, PMID: 21796390; 23085305 (biallelic). More recently individuals have been described with dominant pure hereditary spastic paraplegia PMID: 29528531; 28832565 (monoallelic), adding to the repertoire of ERLIN2 known to be able to cause both AD and AR Hereditary spastic paraplegia. The findings expand the mutational and inheritance spectrum of Spastic paraplegia 18, autosomal recessive (SPG18), and has important implications for genetic counselling

Created: 10 Aug 2018, 2:29 p.m.