Cytopenia - NOT Fanconi anaemia

Gene: RPL26

I don't know

Comment on list classification: Although there are five unrelated families reported with monoallelic RPL26 variants in total (PMIDs: 22431104 & 39268718), only two unrelated individuals have been reported with cytopenia. Hence, this gene can only be rated amber with current evidence.

Created: 19 Jun 2025, 6:33 p.m. | Last Modified: 19 Jun 2025, 6:33 p.m.

Panel Version: 4.20

PMID:39268718 reported 8 affected patients from 4 families with RPL26 variants. Detailed phenotyping revealed that these patients mainly presented with multiple congenital anomalies (particularly radial ray anomalies), albeit with variable expression. Mandibulofacial dysostosis and neural tube defects are potential features in DBA11, expanding the growing list of DBS abnormalities. It was shown in one individual that RPL26 haploinsufficiency was responsible for subclinical impairment in erythroid proliferation and enucleation. The absence of haematological involvement in 4 adults from this series contributes to the mounting evidence that bone marrow failure is not central to Diamond-Blackfan anemia 11 phenotype.

Created: 19 Jun 2025, 6:30 p.m. | Last Modified: 19 Jun 2025, 6:30 p.m.

Panel Version: 4.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Diamond-Blackfan anemia 11, OMIM:614900

Publications

• 39268718

Green List (high evidence)

PMID: 39268718 described 8 patients from 4 families with the Diamond-Blackfan anemia and multiple congenital anomalies. Enough evidence for the green rating.
probably gene should be added also to other panels (like limb disorders; hematological malignancies).

Created: 16 Dec 2024, 8:02 a.m. | Last Modified: 16 Dec 2024, 8:02 a.m.

Panel Version: 3.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia

Publications

• 39268718

The 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

• 22431104

Red List (low evidence)

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

• 22431104

Green List (high evidence)

I don't know

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 submitted

Created: 6 Feb 2019, 3:13 p.m.

Green List (high evidence)

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