Childhood onset hereditary spastic paraplegia
Gene: SPG21
Adult onset, three families reported. No additional patients identified using Sheffield panel.Created: 10 May 2019, 10:04 a.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.
2 unlread cases published, one in affected members in an amish pedigree with complicated SP and in 2 japanese brothers. In sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Paraplegia, Recessive -Mast syndrome, 248900
Onset typically in adulthood, although motor difficulties are sometimes noted in childhood (14564668)Created: 25 Feb 2019, 11:06 a.m.
Publications for gene: SPG21 were set to 14564668
Source Yorkshire and North East GLH was added to SPG21.
Source NHS GMS was added to SPG21.
Source London North GLH was added to SPG21.
Added phenotypes Spastic Paraplegia, Recessive; Mast syndrome, 248900 for gene: SPG21
Arianna Tucci: Onset at birth
Publications for gene: SPG21 were set to Simpson et al. (2003)
Phenotypes for gene: SPG21 were changed from Spastic Paraplegia, Recessive to Spastic Paraplegia, Recessive; Mast syndrome, 248900
gene: SPG21 was added gene: SPG21 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG21 were set to Simpson et al. (2003) Phenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive