Radial dysplasia
Gene: RPS7EnsemblGeneIds (GRCh38): ENSG00000171863
EnsemblGeneIds (GRCh37): ENSG00000171863
OMIM: 603658, Gene2Phenotype
RPS7 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, 1:45 p.m.
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Relevant phenotype plus sufficient cases to support causation.Created: 9 Mar 2017, 9:49 a.m.
Comment on list classification: Kept rating as Green: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel. >3 cases supporting causation in OMIM plus literature.Created: 9 Mar 2017, 9:49 a.m.
2 splice variants (3 patients with Diamond-Blackfan anemia) reported in OMIM (PMID:19061985, PMID:27882484, PMID:23718193). Further splice variants reported in 3 unrelated cases (1 sporadic, 2 familial) in the Russian population in PMID:25946618.Created: 9 Mar 2017, 9:48 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 8, 612563
- upper limb malformation
- OMIM
- 603658
- Clinvar variants
- Variants in RPS7
- 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 RPS7 were set to Diamond-Blackfan anemia 8, 612563; 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 RPS7 were set to 19061985
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)RPS7 was added to Radial dysplasiapanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)RPS7 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)RPS7 was added to Radial dysplasiapanel. Sources: Other