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Intellectual_disability

Gene: RBM28

Red List (low evidence)

RBM28 (RNA binding motif protein 28)
EnsemblGeneIds (GRCh38): ENSG00000106344
EnsemblGeneIds (GRCh37): ENSG00000106344
OMIM: 612074, Gene2Phenotype
RBM28 is in 3 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alopecia, neurologic defects, and endocrinopathy syndrome, 612079
OMIM
612074
Clinvar variants
Variants in RBM28
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RBM28 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen