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  3. RGS10
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Combined Immunodeficiency

Gene: RGS10

Red List (low evidence)
RGS10 (regulator of G protein signaling 10)
EnsemblGeneIds (GRCh38): ENSG00000148908
EnsemblGeneIds (GRCh37): ENSG00000148908
OMIM: 602856, Gene2Phenotype
RGS10 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Three affected siblings with short stature and immunodeficiency and segregating biallelic variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). The affected individuals had recurrent infections, hypergammaglobulinaemia, profoundly reduced lymphocyte chemotaxis, abnormal lymph node architecture, and short stature due to growth hormone deficiency. Limited functional data presented. Further experimental data linking RGS10 to immune function presented in PMID 34339853.
Sources: Literature
Created: 7 Aug 2021, 6:15 a.m. | Last Modified: 7 Aug 2021, 6:16 a.m.
Panel Version: 0.290

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency; short stature

Publications

Created: 7 Aug 2021, 6:15 a.m.
Last Modified: 7 Aug 2021, 6:16 a.m.
Panel version: 0.290

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Immunodeficiency
  • short stature
OMIM
602856
Clinvar variants
Variants in RGS10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rgs10 has been classified as Red List (Low Evidence).

7 Aug 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RGS10 were set to 34315806

7 Aug 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RGS10 was added gene: RGS10 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: RGS10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RGS10 were set to 34315806 Phenotypes for gene: RGS10 were set to Immunodeficiency; short stature Review for gene: RGS10 was set to RED