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  3. TNRC6B
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Fetal anomalies

Gene: TNRC6B

Red List (low evidence)
TNRC6B (trinucleotide repeat containing 6B)
EnsemblGeneIds (GRCh38): ENSG00000100354
EnsemblGeneIds (GRCh37): ENSG00000100354
OMIM: 610740, Gene2Phenotype
TNRC6B is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Esther Kinning (NHS Greater Glasgow and Clyde)

Red List (low evidence)

Pathogenic variant seen in an R14 case presenting with Chiari II malformation, myelomeningocele, significant central apnoea, vocal cord palsy and dysmorphic facial features. No other reports with neural tube - likely incidental. Neurodevelopmental disorder
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Global developmental delay with speech and behavioral abnormalities, MIM#619243

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Global developmental delay with speech and behavioral abnormalities, OMIM:61924
OMIM
610740
Clinvar variants
Variants in TNRC6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TNRC6B was added gene: TNRC6B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNRC6B were set to 29463886; 32152250 Phenotypes for gene: TNRC6B were set to Global developmental delay with speech and behavioral abnormalities, OMIM:61924