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  2. Fetal anomalies
  3. TRA2B
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Fetal anomalies

Gene: TRA2B

Amber List (moderate evidence)
TRA2B (transformer 2 beta homolog)
EnsemblGeneIds (GRCh38): ENSG00000136527
EnsemblGeneIds (GRCh37): ENSG00000136527
OMIM: 602719, Gene2Phenotype
TRA2B is in 5 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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Thin or hypoplastic corpus callosum, microcephaly (although might be progressive, youngest indiv 14m, OFC not mentioned)
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
Ramond-Elliott neurodevelopmental syndrome, MONDO:0980751; Ramond-Elliott neurodevelopmental syndrome, OMIM:621421

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
  • Ramond-Elliott neurodevelopmental syndrome, MONDO:0980751
  • Ramond-Elliott neurodevelopmental syndrome, OMIM:621421
OMIM
602719
Clinvar variants
Variants in TRA2B
Penetrance
None
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: TRA2B was added gene: TRA2B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRA2B were set to Ramond-Elliott neurodevelopmental syndrome, MONDO:0980751; Ramond-Elliott neurodevelopmental syndrome, OMIM:621421