C14orf80

tubulin epsilon and delta complex 1
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber C14orf80 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary microcephaly, MONDO:0016660
Tags
  • new gene name

Amber C14orf80 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary microcephaly, MONDO:0016660
Tags
  • new gene name

Amber C14orf80 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary microcephaly, MONDO:0016660
Tags
  • new gene name