Adult onset hereditary spastic paraplegia
Gene: POLR3AEnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 19 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694
- Autosomal Recessive Ataxia
- OMIM
- 614258
- Clinvar variants
- Variants in POLR3A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Pituitary hormone deficiency
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to POLR3A. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: POLR3A were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to POLR3A.
Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POLR3A.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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