Microcephaly
Gene: C14orf80
New HGNC approved Gene Name: TEDC1
Only two families reported with biallelic variants in this gene - Reports of a supportive functional assay however rated as Amber given that one of the reported families are consanguineous with hmz missense variant.
PMID: 39979680 - Male sibs from non-consanguineous parents presenting with a range of phenotypes including growth development abnormalities, microcephaly, DD, ID and endocrine insufficiency. The brothers were found to carry chet variants identified in trans [NM_001134877.1 c.[104-5C>G];[787delG] p.[?];[(Ala263LeufsTer29)].
Homozygous zebrafish model recapitulated the human phenotype and is supportive of the loss of function mechanism of disease.
PMID: 38252227 - Iranian consanguineous families identified with a rare biallelic missense variant (Gln269Arg). The affected brothers presented with a range of developmental phenotypes including cognitive impairment and microcephaly.
Sources: LiteratureCreated: 5 Mar 2025, 5:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary microcephaly, MONDO:0016660
Publications
Tag new gene name tag was added to gene: C14orf80.
Gene: c14orf80 has been classified as Amber List (Moderate Evidence).
Gene: c14orf80 has been classified as Amber List (Moderate Evidence).
gene: C14orf80 was added gene: C14orf80 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf80 were set to 39979680; 38252227 Phenotypes for gene: C14orf80 were set to Primary microcephaly, MONDO:0016660 Review for gene: C14orf80 was set to AMBER