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Ataxia and cerebellar anomalies - narrow panel

Gene: UBTF

No list

UBTF (upstream binding transcription factor, RNA polymerase I)
EnsemblGeneIds (GRCh38): ENSG00000108312
EnsemblGeneIds (GRCh37): ENSG00000108312
OMIM: 600673, Gene2Phenotype
UBTF is in 6 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Paediatric ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants.
Sources: Expert list
Created: 13 Sep 2020, 7:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

13 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UBTF was added gene: UBTF was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBTF were set to 29300972 Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Review for gene: UBTF was set to GREEN gene: UBTF was marked as current diagnostic