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  2. Defects of intrinsic and innate immunity
  3. RPSA
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Defects of intrinsic and innate immunity

Gene: RPSA

Green List (high evidence)
RPSA (ribosomal protein SA)
EnsemblGeneIds (GRCh38): ENSG00000168028
EnsemblGeneIds (GRCh37): ENSG00000168028
OMIM: 150370, Gene2Phenotype
RPSA is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Asplenia, isolated congenital, MIM# 271400

Publications

Created: 8 Jan 2020, 1:29 a.m.
Last Modified: 8 Jan 2020, 1:29 a.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Asplenia, isolated congenital, MIM# 271400
OMIM
150370
Clinvar variants
Variants in RPSA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital, MIM# 271400

8 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPSA were set to

8 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPSA 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: RPSA was added gene: RPSA was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: RPSA was set to Unknown