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Intellectual_disability

Gene: CRBN

Red List (low evidence)

CRBN (cereblon)
EnsemblGeneIds (GRCh38): ENSG00000113851
EnsemblGeneIds (GRCh37): ENSG00000113851
OMIM: 609262, Gene2Phenotype
CRBN is in 2 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, autosomal recessive 2, 607417
OMIM
609262
Clinvar variants
Variants in CRBN
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CRBN was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen