Childhood 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, 11:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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 2019Created: 2 May 2019, 4:37 p.m.
Several publications. Several recessive genes assoicated with HSP also have leukodystrophy as clinical feature. Victoria: GREENCreated: 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 childhoodCreated: 14 Jan 2019, 5:20 p.m.
Publications for gene: POLR3A were set to 25655951; 21855841
Source Yorkshire and North East GLH was added to POLR3A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: polr3a has been classified as Green List (High Evidence).
Gene: polr3a has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to POLR3A.
Source London North GLH was added to POLR3A.
Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia for gene: POLR3A Publications for gene POLR3A were changed from 21855841; 25655951 to 25655951; 21855841
Arianna Tucci: Onset in childhood
Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia
gene: POLR3A was added gene: POLR3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 21855841; 25655951 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia