UBR7

ubiquitin protein ligase E3 component n-recognin 7 (putative)
OMIM: 613816
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, epilepsy, hypothyroidism, congenital anomalies, dysmorphic features