NUF2

NUF2, NDC80 kinetochore complex component
OMIM: 611772, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red NUF2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • microcephaly
  • short stature
  • bilateral vocal cord paralysis
  • micrognathia
  • atrial septal defect

Red NUF2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • microcephaly
  • short stature
  • bilateral vocal cord paralysis
  • micrognathia
  • atrial septal defect

Red NUF2 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Syndromic disease, MONDO:0002254
  • microcephaly
  • short stature
  • bilateral vocal cord paralysis
  • micrognathia
  • atrial septal defect