Ataxia - paediatric
Gene: POLR3AEnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 18 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
c.1909+22G>A is a recurring variant that results in a leaky splice site
Bi-allelic variants associated with Leukodystrophy and with Wiedemann-Rautenstrauch syndrome; note association between mono-allelic variants and susceptibility to severe VZV infection.
Deep intronic variants commonly pathogenic
No clear gen-phen correlationCreated: 24 Mar 2021, 4:20 a.m. | Last Modified: 24 Mar 2021, 4:20 a.m.
Panel Version: 0.6876
Bi-allelic variants associated with Leukodystrophy and with Wiedemann-Rautenstrauch syndrome; note association between mono-allelic variants and susceptibility to severe VZV infection.
Deep intronic variants commonly pathogenic
No clear gen-phen correlationCreated: 24 Mar 2021, 4:13 a.m. | Last Modified: 24 Mar 2021, 4:13 a.m.
Panel Version: 0.6876
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694; Wiedemann-Rautenstrauch syndrome MIM#264090; POLR3A-related spastic ataxia
Publications
- PMID: 31637490
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants associated with Leukodystrophy and with Wiedemann-Rautenstrauch syndrome; note association between mono-allelic variants and susceptibility to severe VZV infection.Created: 5 Apr 2020, 8:08 a.m. | Last Modified: 5 Apr 2020, 8:08 a.m.
Panel Version: 0.1979
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Autosomal Recessive Ataxia
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
- Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694
- OMIM
- 614258
- Clinvar variants
- Variants in POLR3A
- Penetrance
- None
- 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).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: POLR3A was added gene: POLR3A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3A were set to Autosomal Recessive Ataxia; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694