UFC1

ubiquitin-fold modifier conjugating enzyme 1
OMIM: 610554, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green UFC1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)

Green UFC1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)

Green UFC1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth
  • OMIM #618076

Red UFC1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)