Adult onset hereditary spastic paraplegia

Gene: DSTYK

I don't know

Childhood onset. Three families with same founder mutation.

Created: 9 May 2019, 12:10 p.m.

Publications

• 28157540

I don't know

1 report (Lee et al 2017). PanelApp comment: 3 unrelated families w/ same delins - Founder effect?

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 23, 270750

Publications

• 28157540

I don't know

Green gene with 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.

Green List (high evidence)

associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy. 3 unrelated families of Middle Eastern descent with spastic paraplegia-23 . 7 affected members of a Sardinian family (K100) with congenital anomalies of the kidney and urinary tract-1-incomplete penetrance

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

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

Phenotypes
Congenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750, AR