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Fetal anomalies

Gene: UBTF

Amber List (moderate 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

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Chandler (North Thames GLH)

I don't know

Green on various panels on UK panelapp. Amber FA review was from creation of the panel, red on Aus FA panelapp saying postnatal phenotype. Progressive cortical atrophy. PMID: 29300972 4 patients with MRI findings. 3/4 thinning of CC, progressive cerebellar atrophy (likely postnatal), 2/4 ventriculomegaly. PMID: 28777933 no mention of CC or bentriculomegaly in brain MRI but 1 thin mentioned in manuscript - diffuse WM. Amber - all reports say brain finidings are progressive postnally but not sure in regards to CC.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Childhood-Onset Neurodegeneration
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Activating.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Childhood-Onset Neurodegeneration
  • neurodevelopmental disorder, MONDO:0700092
OMIM
600673
Clinvar variants
Variants in UBTF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to UBTF. Mode of inheritance for gene UBTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes neurodevelopmental disorder, MONDO:0700092 for gene: UBTF Publications for gene: UBTF were updated from to 41534641

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: UBTF was added gene: UBTF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration