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  2. Early onset pancytopenia and red cell disorders
  3. TUBB1
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Early onset pancytopenia and red cell disorders

Gene: TUBB1

Red List (low evidence)
TUBB1 (tubulin beta 1 class VI)
EnsemblGeneIds (GRCh38): ENSG00000101162
EnsemblGeneIds (GRCh37): ENSG00000101162
OMIM: 612901, Gene2Phenotype
TUBB1 is in 5 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112
OMIM
612901
Clinvar variants
Variants in TUBB1
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TUBB1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

25 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TUBB1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Radboud University Medical Center, Nijmegen