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  2. Hydrops fetalis
  3. RPS26
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Hydrops fetalis

Gene: RPS26

Red List (low evidence)
RPS26 (ribosomal protein S26)
EnsemblGeneIds (GRCh38): ENSG00000197728
EnsemblGeneIds (GRCh37): ENSG00000197728
OMIM: 603701, Gene2Phenotype
RPS26 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Hydrops is a feature of DBA, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Created: 13 Aug 2020, 11:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 10, MIM# 613309

Created: 13 Aug 2020, 11:38 p.m.

Panel version: 0.154

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 10, MIM# 613309
OMIM
603701
Clinvar variants
Variants in RPS26
Penetrance
None
Panels with this gene

History Filter Activity

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps26 has been classified as Red List (Low Evidence).

13 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS26 was added gene: RPS26 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10, MIM# 613309 Review for gene: RPS26 was set to RED