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  3. C14orf80
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Fetal anomalies

Gene: C14orf80

Amber List (moderate evidence)
C14orf80 (tubulin epsilon and delta complex 1)
EnsemblGeneIds (GRCh38): ENSG00000185347
EnsemblGeneIds (GRCh37): ENSG00000185347
C14orf80 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Added new-gene-name tag as the latest HGNC symbol for C14orf80 is TEDC1
Created: 8 Sep 2025, 4:08 p.m. | Last Modified: 8 Sep 2025, 4:08 p.m.
Panel Version: 6.82
New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.82

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Miyake et al: report 2 sibs with prenatal phenotype (severe growth restriction, primary microcephaly, craniosynostosis, congenital tracheal stenosis) and did functional work. Sarli et al, 2024: report 2 sibs with primary AR microcephaly, didn't obviously present prenatally (can't access full paper). Gene not yet OMIM morbid. Suggest review next time and consider promotion with more evidence.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe growth impairment and endocrine complications

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • severe growth impairment and endocrine complications
Tags
new-gene-name
Clinvar variants
Variants in C14orf80
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: C14orf80.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: C14orf80 was added gene: C14orf80 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf80 were set to 39979680 Phenotypes for gene: C14orf80 were set to severe growth impairment and endocrine complications