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Early-onset Parkinson disease

Gene: UBTF

Green List (high evidence)
UBTF (upstream binding transcription factor, RNA polymerase I)
EnsemblGeneIds (GRCh38): ENSG00000108312
EnsemblGeneIds (GRCh37): ENSG00000108312
OMIM: 600673, Gene2Phenotype
UBTF is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Extrapyramidal movement disorder with dystonia, chorea, parkinsonism, or rigidity.
Created: 19 Jul 2022, 8:11 a.m. | Last Modified: 19 Jul 2022, 8:11 a.m.
Panel Version: 0.141

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672

Created: 19 Jul 2022, 8:11 a.m.
Last Modified: 19 Jul 2022, 8:11 a.m.
Panel version: 0.141

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 12:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodegeneration, childhood-onset; Parkinsonism; Dystonia; Chorea; Brain atrophy

Publications

Created: 17 Jul 2022, 12:31 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672
  • Parkinsonism
  • Dystonia
  • Chorea
  • Brain atrophy
OMIM
600673
Clinvar variants
Variants in UBTF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset; Parkinsonism; Dystonia; Chorea; Brain atrophy to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; Parkinsonism; Dystonia; Chorea; Brain atrophy

19 Jul 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UBTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: UBTF was added gene: UBTF was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBTF were set to PubMed: 28777933; 29300972 Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset; Parkinsonism; Dystonia; Chorea; Brain atrophy Review for gene: UBTF was set to GREEN