Adult onset hereditary spastic paraplegia
Gene: POLR3A
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, 11:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Red gene with Green 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.
Several publications. Several recessive genes assoicated with HSP also have leukodystrophy as clinical feature. Victoria: GREENCreated: 25 Apr 2019, 1:22 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
Source Expert Review Green was added to POLR3A. Rating Changed from Red List (low evidence) to Green List (high evidence)
Publications for gene: POLR3A were set to
Source Yorkshire and North East GLH was added to POLR3A.
Source Expert Review Red was added to POLR3A. Mode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia for gene: POLR3A
Source NHS GMS was added to POLR3A.
gene: POLR3A was added gene: POLR3A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: POLR3A was set to