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  3. RPS29
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Bone Marrow Failure

Gene: RPS29

Amber List (moderate evidence)
RPS29 (ribosomal protein S29)
EnsemblGeneIds (GRCh38): ENSG00000213741
EnsemblGeneIds (GRCh37): ENSG00000213741
OMIM: 603633, Gene2Phenotype
RPS29 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported in 2014, none since.
Created: 23 Jul 2020, 1:18 a.m. | Last Modified: 23 Jul 2020, 1:18 a.m.
Panel Version: 0.61

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 13, MIM# 615909

Publications

Created: 23 Jul 2020, 1:18 a.m.
Last Modified: 23 Jul 2020, 1:18 a.m.
Panel version: 0.61

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 13, MIM# 615909
OMIM
603633
Clinvar variants
Variants in RPS29
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps29 has been classified as Amber List (Moderate Evidence).

23 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909

23 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS29 were set to

23 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps29 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS29 was added gene: RPS29 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS29 was set to Unknown