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  2. Hydrops fetalis
  3. RPS24
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Hydrops fetalis

Gene: RPS24

Red List (low evidence)
RPS24 (ribosomal protein S24)
EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Hydrops is a feature of DBS, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Created: 13 Aug 2020, 11:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-blackfan anemia 3, MIM# 610629

Created: 13 Aug 2020, 11:33 p.m.

Panel version: 0.153

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-blackfan anemia 3, MIM# 610629
OMIM
602412
Clinvar variants
Variants in RPS24
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: rps24 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: RPS24 was added gene: RPS24 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, MIM# 610629 Review for gene: RPS24 was set to RED