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Intellectual_disability

Gene: CEP135

Red List (low evidence)

CEP135 (centrosomal protein 135)
EnsemblGeneIds (GRCh38): ENSG00000174799
EnsemblGeneIds (GRCh37): ENSG00000174799
OMIM: 611423, Gene2Phenotype
CEP135 is in 4 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 8, primary, autosomal recessive, 614673
OMIM
611423
Clinvar variants
Variants in CEP135
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CEP135 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen