Cytopenia - NOT Fanconi anaemia
Gene: RPL26The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:49 a.m.
Panel Version: 1.57
Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. However, this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).Created: 30 Sep 2020, 2:11 p.m. | Last Modified: 30 Sep 2020, 2:11 p.m.
Panel Version: 1.25
To date, only a single individual has been reported with Diamond-Blackfan anemia due to a de novo 2-nucleotide deletion in RPL26. Includes some in vitro functional data indicating the variant impairs RPL26 function in ribosome biogenesis (PMID: 22431104)Created: 30 Sep 2020, 2:10 p.m. | Last Modified: 30 Sep 2020, 2:12 p.m.
Panel Version: 1.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia 11, 614900
Publications
Single reported individual.Created: 14 Sep 2020, 7:54 a.m. | Last Modified: 14 Sep 2020, 7:54 a.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 11, MIM# 614900
Publications
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, 1:42 p.m. | Last Modified: 22 Jul 2019, 1:42 p.m.
Panel Version: 0.89
New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.Created: 4 May 2019, 8:55 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, 3:13 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, 3:12 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).
Gene: rpl26 has been classified as Green List (High Evidence).
Source London South GLH was added to RPL26.
Phenotypes for gene: RPL26 were changed from ?Diamond-Blackfan anemia 11,614900 to ?Diamond-Blackfan anemia 11, 614900
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 Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL26 was set to