1. Panels
  2. Intellectual disability
  3. UBTF
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

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

4 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green as the phenotype is consistent with ID
Created: 10 Nov 2017, 3:24 p.m.
Created: 10 Nov 2017, 3:24 p.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.65

Caroline Wright (Sanger)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and literature (PMID:28777933).
Created: 31 Oct 2017, 11:35 a.m.
Comment on list classification: Updated rating to Amber, awaiting clinical review. 7 unrelated patients from multiple populations, but 1 variant only.
Created: 31 Oct 2017, 11:34 a.m.
>3 unrelated cases from 1 paper supporting childhood developmental regression: PMID:28777933 (2017) report 7 unrelated affected individuals (from USA, Canada, France, Israel, Russia) with developmental regression starting at 2.5 to 7 years. All had a de-novo heterozygous c.628G>A (p.Glu210Lys) UBTF variant. The variant increased rDNA promoter binding, thereby increasing 18S expression.
Created: 31 Oct 2017, 9:23 a.m.

Phenotypes
developmental regression; motor and language regression; developmental delay

Publications

Created: 31 Oct 2017, 9:23 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.4

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:40 a.m.

Panel version: 0.306

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672
OMIM
600673
Clinvar variants
Variants in UBTF
Penetrance
Complete
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

6 May 2021, Gel status: 3

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: UBTF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

6 May 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: UBTF were set to 26350204; 28777933

6 May 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UBTF were changed from developmental regression; motor and language regression; developmental delay; Neurodegeneration, childhood-onset, with brain atrophy, 617672 to Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672

11 Feb 2021, Gel status: 3

Clear Sources

Ivone Leong (Genomics England Curator)

Source: Expert Review Red was removed from gene: UBTF

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to UBTF.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to UBTF. Panel: Intellectual disability Model of inheritance for gene UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene UBTF was set to ['26350204', ' 28777933']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

UBTF was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

UBTF was added to Intellectual disabilitypanel. Sources: Expert Review Red