Limb disorders
Gene: RPS7Comment 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.
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.
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
Rebecca Foulger: 2 splice variants (3 patients
Source Expert Review Green was added to RPS7. Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 8, 612563; upper limb malformation for gene: RPS7 Publications for gene RPS7 were changed from to 19061985
RPS7 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPS7 was created by Ellen McDonagh