Radial Ray Abnormalities
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, 5:33 a.m. | Last Modified: 3 Oct 2024, 5:33 a.m.

Panel Version: 1.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia MONDO:0015253

Publications

39268718

Created: 3 Oct 2024, 5:33 a.m.
Last Modified: 3 Oct 2024, 5:33 a.m.
Panel version: 1.10

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single reported individual.
Created: 2 Mar 2020, 2:27 a.m. | Last Modified: 2 Mar 2020, 2:27 a.m.

Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 11, MIM# 614900

Publications

22431104

Created: 2 Mar 2020, 2:27 a.m.
Last Modified: 2 Mar 2020, 2:27 a.m.
Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
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