Radial dysplasia
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for RPL35A were set to Diamond-Blackfan anemia 5, 612528; upper limb malformation
This gene has been classified as Green List (High Evidence).
Publications for RPL35A were set to 18535205
This gene has been classified as Green List (High Evidence).
RPL35A was added to Radial dysplasiapanel. Sources: Expert list
RPL35A was added to Radial dysplasiapanel. Sources: Other
RPL35A was created by rfoulger