Radial dysplasia
Gene: RPL35AEnsemblGeneIds (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 reviewsCreated: 11 May 2017, 1:31 p.m.
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.
BRIDGE consortium (NIHRBR-RD)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Other
- Phenotypes
-
- Diamond-Blackfan anemia 5, 612528
- upper limb malformation
- OMIM
- 180468
- Clinvar variants
- Variants in RPL35A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for RPL35A were set to Diamond-Blackfan anemia 5, 612528; upper limb malformation
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for RPL35A were set to 18535205
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Rebecca Foulger (Genomics England curator)RPL35A was added to Radial dysplasiapanel. Sources: Expert list
Added New Source
Rebecca Foulger (Genomics England curator)RPL35A was added to Radial dysplasiapanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)RPL35A was created by rfoulger