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Fetal anomalies

Gene: RPL26

Green List (high evidence)
RPL26 (ribosomal protein L26)
EnsemblGeneIds (GRCh38): ENSG00000161970
EnsemblGeneIds (GRCh37): ENSG00000161970
OMIM: 603704, Gene2Phenotype
RPL26 is in 9 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Gene-disease: Green on DDG2P and Paediatric disorders panel. Red on limb panel. PMID: 39268718: 8 affected patients from 4 families. Phenotype was multiple congenital anomalies (particularly radial ray anomalies), variable expression. PMID 39710607: 3 adult siblings with thumb anomalies and het frameshift variants. Parental status unknown. Gazda (2012, PMID 22431104): 16 RP genes screened in 96 patients with DBA. Detected one girl with de novo het frameshift with isolated cleft palate, absent external auditory meatus on the right and a narrowed meatus on the left, incomplete lower left eyelid, bicuspid aortic valve, and agenesis of the left kidney. Single bone in the forearm, likely the ulna, and on the left, synostosis of a shortened radius and ulna; both thumbs were absent and she had 3 digits on each hand. Functional studies showed altered (elongated) protein, altered ribosome biogenesis, similar effect to RPL26 depletion
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anaemia 11, OMIM:614900

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anaemia 11, OMIM:614900
OMIM
603704
Clinvar variants
Variants in RPL26
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: RPL26. Tag Q3_25_NHS_review was removed from gene: RPL26.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to RPL26. Source NHS GMS was added to RPL26. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: RPL26. Tag Q3_25_NHS_review tag was added to gene: RPL26.

5 Sep 2025, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: RPL26 was added gene: RPL26 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL26 were set to 22431104; 39268718 Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11, OMIM:614900