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  2. Early onset pancytopenia and red cell disorders
  3. RPL11
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Early onset pancytopenia and red cell disorders

Gene: RPL11

Green List (high evidence)
RPL11 (ribosomal protein L11)
EnsemblGeneIds (GRCh38): ENSG00000142676
EnsemblGeneIds (GRCh37): ENSG00000142676
OMIM: 604175, Gene2Phenotype
RPL11 is in 10 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 7, 612562
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 7
  • DIAMOND-BLACKFAN ANEMIA 7
OMIM
604175
Clinvar variants
Variants in RPL11
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL11 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL11 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL11 was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL11 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL11 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL11 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list