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  2. Hydrops fetalis
  3. RPS10
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Hydrops fetalis

Gene: RPS10

Red List (low evidence)
RPS10 (ribosomal protein S10)
EnsemblGeneIds (GRCh38): ENSG00000124614
EnsemblGeneIds (GRCh37): ENSG00000124614
OMIM: 603632, Gene2Phenotype
RPS10 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Hydrops has been described in DBS, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Created: 13 Aug 2020, 11:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 9, MIM# 613308

Created: 13 Aug 2020, 11:31 p.m.

Panel version: 0.152

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 9, MIM# 613308
OMIM
603632
Clinvar variants
Variants in RPS10
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: rps10 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: RPS10 was added gene: RPS10 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9, MIM# 613308 Review for gene: RPS10 was set to RED