Adult onset hereditary spastic paraplegia

Gene: GCH1

Green List (high evidence)

Further HSP patients identified using Sheffield panel with monoallelic pathogenic variants.

Created: 9 May 2019, 5:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Will include in local HSP panel

Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia; Spastic paraplegia; progressive spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230

Publications

• 24509643
• 21935284

Green List (high evidence)

Upgrade from Amber to Green on the HSP panel. General neurologists may have difficulty distinguishing between patients with HSP and DOPA-responsive dystonia. Therefore if the clinician puts them forward for the HSP panel and this gene isn't included a differential diagnosis could be missed. Importantly - this is a life changing condition that could be treated if a pathogenic variant was identified.

Created: 28 Apr 2019, 4:30 p.m.

Upgrade from Amber to Green on the HSP panel. General neurologists may have difficulty distinguishing between patients with HSP and DOPA-responsive dystonia. Therefore if the clinician puts them forward for the HSP panel and this gene isn't included a differential diagnosis could be missed. Importantly - this is a life changing condition that could be treated if a pathogenic variant was identified.

Created: 26 Apr 2019, 1:33 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green 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.

Green Review and rating submitted by Michael Bonello (The Walton Centre NHS Foundation Trust), submitted by Diane Cairns on behalf of North West GLH for GMS Neurology specialist test group.

Created: 26 Apr 2019, 1:39 p.m.

Green List (high evidence)

2 cases of HSP phenotype ipublications- :24509643,21935284. In sheffields HSP panel

Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia; Spastic paraplegia; progressive spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230