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  3. UTRN
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Fetal anomalies

Gene: UTRN

Red List (low evidence)
UTRN (utrophin)
EnsemblGeneIds (GRCh38): ENSG00000152818
EnsemblGeneIds (GRCh37): ENSG00000152818
OMIM: 128240, Gene2Phenotype
UTRN is in 2 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

Tessa Homfray (Consultant HNS)

Red List (low evidence)

can find only 1 report from Russia and I am uncertain if definitively the cause of the arthrogryposis therefore red.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrogryposis, MONDO:0008779

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • arthrogryposis, MONDO:0008779
OMIM
128240
Clinvar variants
Variants in UTRN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: UTRN was added gene: UTRN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: UTRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UTRN were set to 20583184; 41244983 Phenotypes for gene: UTRN were set to arthrogryposis, MONDO:0008779