C14orf80

tubulin epsilon and delta complex 1
ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green C14orf80 in Mendeliome


Version 1.4851

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

Green C14orf80 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.434

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

Green C14orf80 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

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

Red C14orf80 in Adrenal insufficiency

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 0.76

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254