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Limb disorders
Gene: RPL26

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

5 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 11:04 a.m. | Last Modified: 11 Mar 2026, 11:04 a.m.

Panel Version: 7.22

Created: 11 Mar 2026, 11:04 a.m.
Last Modified: 11 Mar 2026, 11:04 a.m.
Panel version: 7.22

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are five unrelated families reported with congenital anomalies (particularly radial ray anomalies) and monoallelic RPL26 variants. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 19 Jun 2025, 6:41 p.m. | Last Modified: 19 Jun 2025, 6:41 p.m.

Panel Version: 7.8

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.
Created: 19 Jun 2025, 6:37 p.m. | Last Modified: 19 Jun 2025, 6:37 p.m.

Panel Version: 7.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Diamond-Blackfan anemia 11, OMIM:614900

Publications

39268718

Created: 19 Jun 2025, 6:37 p.m.
Last Modified: 19 Jun 2025, 6:41 p.m.
Panel version: 7.4

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per Sarah Leigh's review. One case to date with some supporting evidence. Watchlist at present as phenotype is appropriate for inclusion as a broader differential for radial dysplasia.
Created: 11 May 2017, 1:29 p.m.

Created: 11 May 2017, 1:29 p.m.

Panel version: Imported from Radial dysplasia panel version 0.121

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least 1 variant reported, together with supporting in vitro data
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 11

Created: 9 Mar 2017, 4:32 p.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version 0.522

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Diamond Blackfan Anaemia (DBA)

Publications

22431104

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

?Diamond-Blackfan anemia 11, OMIM:614900

OMIM

603704

Clinvar variants

Variants in RPL26

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Mar 2026, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: RPL26.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Ida Ertmanska (Genomics England Curator)

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

19 Jun 2025, Gel status: 2