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  3. TTBK1
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Fetal anomalies

Gene: TTBK1

Red List (low evidence)
TTBK1 (tau tubulin kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000146216
EnsemblGeneIds (GRCh37): ENSG00000146216
TTBK1 is in 1 panel

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

Beth Young (West Midlands Regional Genetics Laboratory)

Red List (low evidence)

Report of 2 siblings with neurodevlopmental dev delay, non-ambulation, axial hypotonia with lower-limb spasticity and postnatal growth failure with microcephaly. Brain MRI showed a thin brainstem and corpus callosum, periventricular T2 hyperintensities and mild cerebellar atrophy in the older sibling and external hydrocephalus in the younger.Not sufficient evidence to demonstrate that this phenotype would be detectable prenatally.
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, MONDO:0700092

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
  • neurodevelopmental disorder, MONDO:0700092
Clinvar variants
Variants in TTBK1
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: TTBK1 was added gene: TTBK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TTBK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTBK1 were set to 41545183 Phenotypes for gene: TTBK1 were set to neurodevelopmental disorder, MONDO:0700092