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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 4 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.

Caroline Wright (Sanger)

Red List (low evidence)

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

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • developmental regression
  • motor and language regression
  • developmental delay
  • Neurodegeneration, childhood-onset, with brain atrophy, 617672
OMIM
600673
Clinvar variants
Variants in UBTF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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