Limb disorders
Gene: RPL35AComment 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.
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.
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: 3 cases reported in OMIM from
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
RPL35A was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RPL35A was created by Ellen McDonagh