Combined B and T cell defect
Gene: RMRPComment on publications: moved reviews from publications to review sectionCreated: 29 Mar 2018, 12:15 p.m.
Ellen McDonagh (Genomics England Curator) 3 Jun 2016 review: PMID:25663137 - RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations; PMID:26830278;26279652;24217815 - Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.Created: 29 Mar 2018, 12:12 p.m.
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 4:46 p.m.
Comment on list classification: Added by expert review, and rated green by a second reviewer.Created: 3 Jun 2016, 2:54 p.m.
Publications for RMRP were set to 25663137; 26830278; 26279652; 24217815
Publications for RMRP were set to 25663137 - "RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations"; 26830278; 26279652; 24217815 - "Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features".
Publications for RMRP were set to 25663137 - "RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations"; 26830278; 26279652; 24217815
This gene has been classified as Green List (High Evidence).
Publications for RMRP were set to 25663137 - "RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations"; 26830278; 26279652
Publications for RMRP were set to 25663137; 26830278; 26279652
Publications for RMRP were set to 25663137; 26830278
This gene has been classified as Green List (High Evidence).
RMRP was added to Combined B and T cell defectpanel. Sources: Literature,Expert list,Expert Review