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Limb 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

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Diamond-Blackfan anaemia is associated with congenital malformations in approx. 50%. Approximately 38% with upper limb abnormality (inc. triphalangeal, bifid, duplex, hypoplastic or absent thumbs). Therefore considered appropriate for inclusion in the broad differential of radial ray disorders.
Created: 11 May 2017, 1:31 p.m.
Comment on list classification: Sufficient cases as per Rebecca Foulger's reviews
Created: 11 May 2017, 1:31 p.m.
Created: 11 May 2017, 1:31 p.m.

Panel version: Imported from Radial dysplasia panel version 0.122

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel. Plus >3 cases supporting causation.
Created: 9 Mar 2017, 10:05 a.m.
Comment on list classification: Kept rating as Green. 4 cases to support causation from OMIM and further literature.
Created: 9 Mar 2017, 10:04 a.m.
3 cases reported in OMIM from PMID:18535205; in one case, the proband's father and sister also carried the variant and had symptoms consistent with subclinical DBA. Plus 1 further case in the Russian population from PMID:25946618.
Created: 9 Mar 2017, 10:04 a.m.
Created: 9 Mar 2017, 10:04 a.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version 0.439

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: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • upper limb malformation
  • Diamond-Blackfan anemia 5, 612528
  • Radial Ray abnormality
OMIM
180468
Clinvar variants
Variants in RPL35A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: 3 cases reported in OMIM from

16 Oct 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to RPL35A. Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 5, 612528; upper limb malformation for gene: RPL35A Publications for gene RPL35A were changed from to 18535205

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL35A was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RPL35A was created by Ellen McDonagh