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Intellectual_disability

Gene: ZBTB16

Red List (low evidence)

ZBTB16 (zinc finger and BTB domain containing 16)
EnsemblGeneIds (GRCh38): ENSG00000109906
EnsemblGeneIds (GRCh37): ENSG00000109906
OMIM: 176797, Gene2Phenotype
ZBTB16 is in 3 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukemia, acute promyelocytic, PL2F/RARA typeSkeletal defects, genital hypoplasia, and mental retardation, 612447
OMIM
176797
Clinvar variants
Variants in ZBTB16
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZBTB16 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen