Rare anaemia

Gene: RPL27

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 10 Dec 2025, 3:33 p.m. | Last Modified: 10 Dec 2025, 3:33 p.m.

Panel Version: 3.15

Green List (high evidence)

PMID: 25424902 and 38988374 report the de novo occurrence of a RPL27 variant (NM_000988.5(RPL27):c.-2-1G>A) in two unrelated, not ethnically matching cases of Diamond-Blackfan anemia 16 (OMIM:617408). Together with the supportive functional studies in Zebra fish (PMID: 25424902), there is sufficient for RPL27 to be green on this panel.

Created: 7 Apr 2025, 1:27 p.m. | Last Modified: 7 Apr 2025, 1:27 p.m.

Panel Version: 3.10

PMID: 25424902 and 38988374 report the de novo occurrence of a RPL27 variant (NM_000988.5(RPL27):c.-2-1G>A) in two unrelated, not ethnically matching cases of Diamond-Blackfan anemia 16 (OMIM:617408). Together with the supportive functional studies in Zebra fish (PMID: 25424902), there is sufficient for RPL27 to be green on this panel.

Created: 7 Apr 2025, 1:26 p.m. | Last Modified: 7 Apr 2025, 1:26 p.m.

Panel Version: 3.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Diamond-Blackfan anemia 16, OMIM:617408; Diamond-Blackfan anemia 16, MONDO:0044309

Publications

• 25424902
• 38988374

I don't know

The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. The GMS reviewers note that this gene should be demoted to amber as there is only one case, but supported by functional studies and mutation of multiple other ribosomal genes results in the same phenotype.

Created: 7 Feb 2023, 1:54 p.m. | Last Modified: 7 Feb 2023, 1:54 p.m.

Panel Version: 2.4

Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report. See review on the 'Cytopenia - NOT Fanconi anaemia' panel https://panelapp.genomicsengland.co.uk/panels/519/gene/RPL27/ indicating there has only been 1 reported case to date.

Created: 5 Oct 2022, 11:28 p.m. | Last Modified: 5 Oct 2022, 11:28 p.m.

Panel Version: 1.42

Green List (high evidence)

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
617408 ?Diamond-Blackfan anemia 16

Publications

• 25424902

Variants in this GENE are reported as part of current diagnostic practice

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, 3:30 p.m. | Last Modified: 22 Jul 2019, 3:30 p.m.

Panel Version: 0.49

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: RPL27; 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: 617408 ?Diamond-Blackfan anemia 16; PMID(s): 25424902

Created: 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: RPL27; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Diamond-Blackfan anemia;?Diamond-Blackfan anemia 16, 617408; PMID(s): 25424902

Created: 6 Feb 2019, 12:14 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, 12:13 p.m.

Variants in this GENE are reported as part of current diagnostic practice