Genomics England
GMS Panels
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Genes and Entities

OTUD5

OTU deubiquitinase 5
OMIM: 300713
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
OTUD5-associated neurodevelopmental disorder
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056