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  3. RPL35A
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Anaemias and red cell disorders

Gene: RPL35A

Green List (high evidence)
RPL35A (ribosomal protein L35a)
EnsemblGeneIds (GRCh38): ENSG00000182899
EnsemblGeneIds (GRCh37): ENSG00000182899
OMIM: 180468, Gene2Phenotype
RPL35A is in 8 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Diamond Blackfan Anaemia (DBA)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: 0.9

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
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 5, 612528
  • Diamond_Blackfan Anemia 5
  • DIAMOND-BLACKFAN ANEMIA 5
OMIM
180468
Clinvar variants
Variants in RPL35A
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Jul 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL35A was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

22 Jul 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL35A was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services RPL35A was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL35A was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list

22 Jul 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPL35A was created by ellenmcdonagh