Hereditary spastic paraplegia
Gene: ERLIN2Comment on list classification: Changed from Red to Green added publications that support gene-disease associationCreated: 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:29528531Created: 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:29528531Created: 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 counsellingCreated: 10 Aug 2018, 2:29 p.m.
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration
Gene: erlin2 has been classified as Green List (High Evidence).
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia autosomal dominant; Intellectual disability; hereditary spastic paraplegia; neurodegeneration
Mode of inheritance for gene: ERLIN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 27824013; 25977983; 23897027; 23109145; 23109142; 23085305; 21796390; 21330303; 22554690; 29528531; 28832565
Publications for gene: ERLIN2 were set to 27824013; 25977983; 23897027; 23109145; 23109142; 23085305; 22554690; 21796390; 21330303; 22554690; 29528531; 28832565
Publications for gene: ERLIN2 were set to 27824013; 25977983; 23897027; 23109145; 23109142; 23085305; 22554690; 21796390; 21330303; 22554690; 29528531
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
ERLIN2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
ERLIN2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen