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  3. TBCB
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Fetal anomalies

Gene: TBCB

Amber List (moderate evidence)
TBCB (tubulin folding cofactor B)
EnsemblGeneIds (GRCh38): ENSG00000105254
EnsemblGeneIds (GRCh37): ENSG00000105254
OMIM: 601303, Gene2Phenotype
TBCB 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)

I don't know

dynamics, guiding proper folding and microtubule regulation.1 family HSP founder mutation Israel prenatal ?CC abnormalitiesOnly 1 paper with founder mutationNeed more evidence, need functional work. Amber. Needs more evidence and needs functional work
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
neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706; Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382

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
  • neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706
  • Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382
OMIM
601303
Clinvar variants
Variants in TBCB
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: TBCB was added gene: TBCB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TBCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCB were set to 40856104 Phenotypes for gene: TBCB were set to neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706; Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382