Early-onset Parkinson disease
Gene: UBTF
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
Sources: LiteratureCreated: 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
Gene: ubtf has been classified as Green List (High Evidence).
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
Mode of inheritance for gene: UBTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ubtf has been classified as Green List (High Evidence).
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