Genomics England
GMS Panels
Panels
Genes and Entities

OTUD5

OTU deubiquitinase 5
OMIM: 300713
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056