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Childhood onset dystonia, chorea or related movement disorder

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 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Created: 3 Mar 2022, 4:45 p.m.
Last Modified: 3 Mar 2022, 4:45 p.m.
Panel version: 1.217

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green status at the next GMS panel update
Created: 6 May 2021, 4:05 p.m. | Last Modified: 6 May 2021, 4:05 p.m.
Panel Version: 1.100
UBTF is associated with a relevant phenotype in OMIM and has a 'probable' disease confidence rating for 'Childhood-Onset Neurodegeneration' ​in Gene2Phenotype.

At least 14 unrelated cases from various ethnic backgrounds reported in literature with a childhood-onset progressive neurodegenerative disorder due to a recurrent heterozygous variant (c.628G>A, p.Glu210Lys) in UBTF. All present cognitive and motor regression, which in most cases developed into a extrapyramidal movement disorder (amongst other features), consisting of dystonia, chorea, parkinsonism, or rigidity
Created: 6 May 2021, 4:04 p.m. | Last Modified: 6 May 2021, 4:04 p.m.
Panel Version: 1.98

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 6 May 2021, 4:04 p.m.
Last Modified: 6 May 2021, 4:04 p.m.
Panel version: 1.98

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 out of 11 unrelated cases with a recurrent de novo gain of function missense variant (p.Glu210Lys) have dystonia as a feature of the condition.
Sources: Expert list
Created: 10 Sep 2020, 9:59 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Created: 10 Sep 2020, 9:59 p.m.

Panel version: 1.51

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672
OMIM
600673
Clinvar variants
Variants in UBTF
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: UBTF.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to UBTF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ubtf has been classified as Amber List (Moderate Evidence).

6 May 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: UBTF were set to 28777933; 29300972

6 May 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: UBTF.

6 May 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672

10 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UBTF was added gene: UBTF was added to Childhood onset dystonia or chorea or related movement disorder. 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 28777933; 29300972 Phenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Mode of pathogenicity for gene: UBTF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: UBTF was set to GREEN gene: UBTF was marked as current diagnostic