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  3. RPS24
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Diamond Blackfan anaemia

Gene: RPS24

Green List (high 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)

Green List (high evidence)

At least 3 unrelated individuals reported.
Created: 6 Mar 2021, 2:23 a.m. | Last Modified: 6 Mar 2021, 2:23 a.m.
Panel Version: 0.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-blackfan anemia 3, MIM# 610629

Publications

Created: 6 Mar 2021, 2:23 a.m.
Last Modified: 6 Mar 2021, 2:23 a.m.
Panel version: 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-blackfan anemia 3, MIM# 610629
  • MONDO:0012529
OMIM
602412
Clinvar variants
Variants in RPS24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps24 has been classified as Green List (High Evidence).

6 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anemia 3, MIM# 610629; MONDO:0012529

6 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS24 were set to

6 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS24 was added gene: RPS24 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS24 was set to Unknown