Adult onset hereditary spastic paraplegia
Gene: IBA57
Three families reported with childhood onset. No additional patients identified using Sheffield panel.Created: 9 May 2019, 5:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Green gene with Red and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
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.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
Victoria-spasticity, optic atrophy, and peripheral neuropathy in the first decade, in sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 74, autosomal recessive, 616451
Phenotypes for gene: IBA57 were changed from ?Spastic paraplegia 74, autosomal recessive, 616451 to ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Source Expert Review Amber was added to IBA57. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to IBA57.
Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57 Publications for gene IBA57 were changed from to 30258207; 25609768
Source South West GLH was added to IBA57.
Source Expert Review Green was added to IBA57. Mode of inheritance for gene IBA57 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to IBA57.
gene: IBA57 was added gene: IBA57 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: IBA57 was set to