Combined Immunodeficiency
Gene: RGS10
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: LiteratureCreated: 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
Gene: rgs10 has been classified as Red List (Low Evidence).
Publications for gene: RGS10 were set to 34315806
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