USP27X

ubiquitin specific peptidase 27, X-linked
OMIM: 300975, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green USP27X in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual disability, X-linked 105, MIM#300984

Green USP27X in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual disability, X-linked 105, MIM#300984

Red USP27X in Fetal anomalies


Version 1.255

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Mental retardation, X-linked 105, MIM#300984