DDG2P
Gene: C14orf80

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The 'new-gene-name' tag has been added as the official HGNC gene symbol for C14orf80 is TEDC1.
Created: 13 Feb 2026, 9:38 p.m. | Last Modified: 13 Feb 2026, 9:38 p.m.

Panel Version: 6.17

The DDG2P confidence category, allelic requirement and molecular mechanism for TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities. are moderate, biallelic_autosomal and loss of function (PMIDs: 30842647, 39979680). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03790.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities.

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities.

Tags

new-gene-name

Clinvar variants

Variants in C14orf80

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: C14orf80 was added gene: C14orf80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf80 were set to 30842647; 39979680 Phenotypes for gene: C14orf80 were set to TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities.

DDG2P Gene: C14orf80