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  3. RPS19
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Radial Ray Abnormalities

Gene: RPS19

Green List (high evidence)
RPS19 (ribosomal protein S19)
EnsemblGeneIds (GRCh38): ENSG00000105372
EnsemblGeneIds (GRCh37): ENSG00000105372
OMIM: 603474, Gene2Phenotype
RPS19 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Mild radial hypoplasia, prominent thumb abnormalities, including triphalangeal, bifid or hypoplastic/absent thumbs.
Created: 6 Mar 2021, 2:19 a.m. | Last Modified: 6 Mar 2021, 2:19 a.m.
Panel Version: 0.73

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110

Publications

Created: 6 Mar 2021, 2:19 a.m.
Last Modified: 6 Mar 2021, 2:19 a.m.
Panel version: 0.73

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 1, MIM# 105650
  • MONDO:0007110
OMIM
603474
Clinvar variants
Variants in RPS19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS19 were changed from Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110 to Diamond-Blackfan anaemia 1, MIM# 105650; MONDO:0007110

6 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps19 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: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110

6 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS19 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: RPS19 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: RPS19 was added gene: RPS19 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS19 was set to Unknown