Genomics England
GMS Panels
Panels
Genes and Entities

OTUD7A

OTU deubiquitinase 7A
OMIM: 612024
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental and epileptic encephalopathy, MONDO:0100062
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental and epileptic encephalopathy, MONDO:0100062, intellectual disability, MONDO:0001071