Dystonia - complex
Gene: POLR3AEnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple individuals reported where dystonia is part of the phenotype. Some of these have had hypomyelinating leukodystrophy, whereas others have had very prominent striatal abnormalities on MRI, in the absence of white matter changes. It is unclear whether this represents a continuum or a separate disorder.
Sources: Expert listCreated: 8 Sep 2020, 11:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Striatal abnormalities; Dystonia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694
- Striatal abnormalities
- Dystonia
- OMIM
- 614258
- Clinvar variants
- Variants in POLR3A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Defects of intrinsic and innate immunity
- Prepair 1000+
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Susceptibility to Viral Infections
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Early-onset Parkinson disease
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Dystonia - complex
- Mendeliome
- Callosome
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polr3a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polr3a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POLR3A was added gene: POLR3A was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 32600288; 32373668; 31940116; 31932101; 29618326 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Striatal abnormalities; Dystonia Review for gene: POLR3A was set to GREEN