Childhood onset hereditary spastic paraplegia
Gene: ERLIN1
Childhood onset. Three families reported by Novarino et al with 7 affected. No reports since.Created: 9 May 2019, 12:16 p.m.
Mode of inheritance
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.
7 individuals from 3 families consanguineous families with spastic paraplegia 62 reported. In sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Onset in childhoodCreated: 25 Feb 2019, 11:34 a.m.
Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.Created: 14 Jan 2019, 9:55 a.m.
Source Yorkshire and North East GLH was added to ERLIN1.
Source NHS GMS was added to ERLIN1.
Source London North GLH was added to ERLIN1.
Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1 Rating Changed from Green List (high evidence) to Green List (high evidence)
Rebecca Foulger: Comment on list classification
Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia - childhood onset to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Gene: erlin1 has been classified as Green List (High Evidence).
Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset
gene: ERLIN1 was added gene: ERLIN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Red Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN1 were set to 24482476 Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia