Childhood onset hereditary spastic paraplegia

Gene: POLR3A

Green List (high evidence)

Childhood and adult onset. Many families. Majority of patients with spasticity seem to have c.1909+22G>A. Additional HSP patient identified using Sheffield ataxia panel.

Created: 10 May 2019, 11:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 25655951
• 21855841
• 28459997

I don't know

Green gene with Red 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, 4:50 p.m.

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:54 p.m.

Red review in file submitted by James Polke but comment denoted Green rating so likely to be error in template. Need to confirm Green rating with Neurology specialist test group May 2019

Created: 2 May 2019, 4:37 p.m.

Red List (low evidence)

Several publications. Several recessive genes assoicated with HSP also have leukodystrophy as clinical feature. Victoria: GREEN

Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694

Onset in childhood

Created: 14 Jan 2019, 5:20 p.m.