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  3. ARNT2
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Fetal anomalies

Gene: ARNT2

Amber List (moderate evidence)
ARNT2 (aryl hydrocarbon receptor nuclear translocator 2)
EnsemblGeneIds (GRCh38): ENSG00000172379
EnsemblGeneIds (GRCh37): ENSG00000172379
OMIM: 606036, Gene2Phenotype
ARNT2 is in 3 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

Louise Carr (North Thames Genomic Medicine Service)

I don't know

A highly consanguineous family was reported with 6 affected children presenting with an unreported syndrome comprising secondary microcephaly with frontal and temporal lobe hypoplasia, variable combined pituitary hormone deficiency, central diabetes insipidus, seizures, global development delay, severe visual impairment and congenital abnormalities of the kidneys and urinary tract (PMID: 24022475). A homozygous frameshift mutation identified in all 6 affected children (c.1373_1374dupTC). An additional 12 unaffected members of the family were heterozygous for the mutation. Predicted that the frameshift mutation would result in premature termination and NMD leading to loss of ARNT2 function. Reported in a single case of 17 year old girl with WEDAS who presented with global development delay, blindness, seizure disorder, a small left kidney with neurogenic bladder, and spastic quadriplegia. Parents are first degree cousins and multiple relative were affected by the same genetic condition. Brother died at 2 years old and sister at 2 months and several cousins were know to carry the same ARNT2 pathogenic variant (PMID: 41363294). Homozygous frameshift variant. Animal models have shown that ARNT2 is vital for the expression of vasopressin and corticotropin-releasing hormone (PMID: 11247670).
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
Webb-Dattani syndrome, OMIM:615926; Webb-Dattani syndrome, MONDO:0014404

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
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Webb-Dattani syndrome, OMIM:615926
  • Webb-Dattani syndrome, MONDO:0014404
OMIM
606036
Clinvar variants
Variants in ARNT2
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: ARNT2 was added gene: ARNT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARNT2 were set to 24022475; 11247670; 41363294 Phenotypes for gene: ARNT2 were set to Webb-Dattani syndrome, OMIM:615926; Webb-Dattani syndrome, MONDO:0014404