1. Panels
  2. Bone Marrow Failure
  3. RPL26
STRs in panel
Prev Next
Regions in panel
Prev Next

Bone Marrow Failure

Gene: RPL26

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 39268718: 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, 6:22 a.m. | Last Modified: 3 Oct 2024, 6:22 a.m.
Panel Version: 1.96
Single reported individual.
Sources: Expert list
Created: 2 Mar 2020, 2:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 11, MIM# 614900

Publications

Created: 2 Mar 2020, 2:20 a.m.

Panel version: 1.96

Details

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

History Filter Activity

3 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPL26 were set to 22431104

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl26 has been classified as Green List (High Evidence).

2 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl26 has been classified as Red List (Low Evidence).

2 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL26 was added gene: RPL26 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL26 were set to 22431104 Phenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900 Review for gene: RPL26 was set to RED