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Fetal anomalies

Gene: TTC1

Amber List (moderate evidence)
TTC1 (tetratricopeptide repeat domain 1)
EnsemblGeneIds (GRCh38): ENSG00000113312
EnsemblGeneIds (GRCh37): ENSG00000113312
OMIM: 601963, Gene2Phenotype
TTC1 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

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Not reviewed for any panel. Red on Australian PanelApp for ID and cerebellar/pontocerebellar hypoplasia.Five patients from three families, all with same homozygous missense variant and structural brain abnormalities.PMID 40879651: Four patients from two families with homozygous c.784T>G p.(Phe262Val). No prenatal assessment. Postnatal brain MRI showed pontocerebellar hypoplasia, ventriculomegaly and dysgenesis of the corpus callosum. PMID 26539891: One further patient with same homozygous variant and cortical dysplasia and corpus callosum hypoplasia. Review by cereballar and cerebral abmormalities panel.
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
pontocerebellar hypoplasia, MONDO:0020135

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
  • pontocerebellar hypoplasia, MONDO:0020135
OMIM
601963
Clinvar variants
Variants in TTC1
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: TTC1 was added gene: TTC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC1 were set to 26539891; 40879651 Phenotypes for gene: TTC1 were set to pontocerebellar hypoplasia, MONDO:0020135