Hereditary spastic paraplegia - childhood onset

Gene: POLR3A

Green List (high evidence)

POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 17 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

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

Louise Daugherty (Genomics England Curator)

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

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

Arianna Tucci (Genomics England Curator)

Onset in childhood
Created: 14 Jan 2019, 5:20 p.m.

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: POLR3A were set to 25655951; 21855841

13 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to POLR3A. Rating Changed from Green List (high evidence) to Green List (high evidence)

2 May 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: polr3a has been classified as Green List (High Evidence).

2 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: polr3a has been classified as Amber List (Moderate Evidence).

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POLR3A.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to POLR3A.

3 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Onset in childhood

28 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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