Adult onset hereditary spastic paraplegia
Gene: SPG21
Adult onset, three families reported. No additional patients identified using Sheffield panel.Created: 10 May 2019, 10:06 a.m.
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
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.
2 unlread cases published, one in affected members in an amish pedigree with complicated SP and in 2 japanese brothers. In sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Paraplegia, autosomal recessive; Mast syndrome, 248900
Publications for gene: SPG21 were set to
Source Yorkshire and North East GLH was added to SPG21.
Source Expert Review Green was added to SPG21. Mode of inheritance for gene SPG21 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive for gene: SPG21 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SPG21.
gene: SPG21 was added gene: SPG21 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SPG21 was set to