Red cell disorders
Gene: RPL26

RPL26 (ribosomal protein L26)
EnsemblGeneIds (GRCh38): ENSG00000161970
EnsemblGeneIds (GRCh37): ENSG00000161970
OMIM: 603704, Gene2Phenotype
RPL26 is in 8 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Additional reported cases with multiple congenital anomalies - predominantly radial ray defects

Article reports five individuals from one family with an intronic variant (c.-6+3_-6+25del). The variant was shown to segregate with AD pattern across 3 generations in similarly affected individuals.
Reported two other unrelated individuals with de novo variants (p.Met30Cysfs*9 and c.-5-2A>G).
Created: 3 Oct 2024, 5:46 a.m. | Last Modified: 3 Oct 2024, 5:46 a.m.

Panel Version: 1.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia MONDO:0015253

Publications

39268718

Created: 3 Oct 2024, 5:46 a.m.
Last Modified: 3 Oct 2024, 5:46 a.m.
Panel version: 1.24

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single reported individual.
Created: 2 Mar 2020, 2:21 a.m. | Last Modified: 2 Mar 2020, 2:21 a.m.

Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 11, MIM# 614900

Publications

22431104

Created: 2 Mar 2020, 2:21 a.m.
Last Modified: 2 Mar 2020, 2:21 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
London South GLH
Wessex and West Midlands GLH
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Diamond-Blackfan anaemia 11, MIM# 614900

OMIM

603704

Clinvar variants

Variants in RPL26

Penetrance

None

Publications

Panels with this gene