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  3. RPL5
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Clefting

Gene: RPL5

Green List (high evidence)
RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 9 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Several patients with mutations have clefts as a feature
Created: 26 May 2017, 7:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
DIAMOND-BLACKFAN ANEMIA 6; DBA6

Publications

Created: 26 May 2017, 7:17 a.m.

Panel version: 0.191

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • DIAMOND-BLACKFAN ANEMIA 6
  • DBA6
  • Cleft palate
OMIM
603634
Clinvar variants
Variants in RPL5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to RPL5. Panel: Clefting Phenotypes for gene RPL5 were set to DIAMOND-BLACKFAN ANEMIA 6, DBA6, Cleft palate

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

RPL5 was created by helen.brittain

26 May 2017, Gel status: 4

Added New Source

Helen Brittain (Genomics England Curator)

RPL5 was added to Cleftingpanel. Sources: Expert Review Green