Adult onset hereditary spastic paraplegia
Gene: DSTYK
Childhood onset. Three families with same founder mutation.Created: 9 May 2019, 12:10 p.m.
Publications
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
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.
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 penetranceCreated: 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
Source Expert Review Amber was added to DSTYK. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to DSTYK.
Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK Publications for gene DSTYK were changed from to 28157540
Source South West GLH was added to DSTYK.
Source Expert Review Green was added to DSTYK. Mode of inheritance for gene DSTYK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Spastic paraplegia 23, 270750, AR; Congenital anomalies of kidney and urinary tract 1, 610805, AD for gene: DSTYK Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to DSTYK.
gene: DSTYK was added gene: DSTYK was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DSTYK was set to