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  3. UBR5
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Fetal anomalies

Gene: UBR5

Amber List (moderate evidence)
UBR5 (ubiquitin protein ligase E3 component n-recognin 5)
EnsemblGeneIds (GRCh38): ENSG00000104517
EnsemblGeneIds (GRCh37): ENSG00000104517
OMIM: 608413, Gene2Phenotype
UBR5 is in 4 panels

2 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 in epilepsy, DDG2P & ID panels. PMID 39721588 Microcephaly 4/22 no age of onset, MRI not mentioned in paper, 3/26 cardiac anomaly ventricular septum defect and patent foramen ovale. 4/25 genital anomalies 2xmicropenis, 2xcryptorchidism. Dysmorphic features variable features not cosistent. 5/14 had hand and feet dysmorphisms, including clinodactyly, long fingers and toes, and one proband with a left postaxial appendage of the upper limb and postaxial polydactyly bilaterally of the lower limb.Amber?
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 with speech delay and behavioral abnormalities, OMIM:621372

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with speech delay and behavioral abnormalities, OMIM:621372
OMIM
608413
Clinvar variants
Variants in UBR5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: UBR5 was added gene: UBR5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: UBR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBR5 were set to 39721588 Phenotypes for gene: UBR5 were set to Neurodevelopmental disorder with speech delay and behavioral abnormalities, OMIM:621372