Genomics England
GMS Panels
Panels
Genes and Entities

OTUD6B

OTU domain containing 6B
OMIM: 612021
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM:617452
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452