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  3. HNRNPU
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Intellectual_disability

Gene: HNRNPU

Red List (low evidence)
HNRNPU (heterogeneous nuclear ribonucleoprotein U)
EnsemblGeneIds (GRCh38): ENSG00000153187
EnsemblGeneIds (GRCh37): ENSG00000153187
OMIM: 602869, Gene2Phenotype
HNRNPU is in 5 panels

0 reviews

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotypeDevelopmental delay and intellectual disability (King (2014) Genome Res 24, 673)Infantile spasms (Du (2014) BMC Med Genet 15, 62)Speech delay, seizures & CNS anomalies (Caliebe (2010) Eur J Med Genet 53, 179)Seizures (Ballif (2012) Hum Genet 131, 145)Epileptic encephalopathy (Mefford (2011) Ann Neurol 70, 974)Intellectual disability & seizures (Thierry (2012) Am J Med Genet A 158A, 1633)Thin corpus callosum, psychomotor delay & seizures (Selmer (2012) Eur J Med Genet 55,715)
OMIM
602869
Clinvar variants
Variants in HNRNPU
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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