Rare anaemia
Gene: RPL26The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:03 a.m. | Last Modified: 4 Mar 2022, 10:03 a.m.
Panel Version: 1.38
I can still only find one published individual with a variant in this gene.Created: 2 Mar 2020, 2:19 a.m. | Last Modified: 2 Mar 2020, 2:19 a.m.
Panel Version: 1.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 11, MIM# 614900
Publications
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 3:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
614900 ?Diamond-Blackfan anemia 11
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.Created: 22 Jul 2019, 3:31 p.m. | Last Modified: 22 Jul 2019, 3:31 p.m.
Panel Version: 0.50
Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.Created: 4 May 2019, 8:55 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL26; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614900 ?Diamond-Blackfan anemia 11; PMID(s): 22431104Created: 8 Feb 2019, 3:49 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL26; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: ?Diamond-Blackfan anemia 11, 614900; PMID(s): none submittedCreated: 6 Feb 2019, 12:14 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 12:13 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: RPL26.
Source Expert Review Red was added to RPL26. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag for-review tag was added to gene: RPL26.
Gene: rpl26 has been classified as Green List (High Evidence).
Added phenotypes 614900 ?Diamond-Blackfan anemia 11 for gene: RPL26 Publications for gene RPL26 were changed from to 22431104
Source London South GLH was added to RPL26.
Source NHS GMS was added to RPL26.
Source Expert Review Green was added to RPL26. Mode of inheritance for gene RPL26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Diamond-Blackfan anemia 11, 614900 for gene: RPL26 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RPL26 was added gene: RPL26 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL26 was set to