Combined Immunodeficiency

Gene: ITPR3

Green List (high evidence)

ITPR3 (inositol 1,4,5-trisphosphate receptor type 3)
EnsemblGeneIds (GRCh38): ENSG00000096433
EnsemblGeneIds (GRCh37): ENSG00000096433
OMIM: 147267, Gene2Phenotype
ITPR3 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency, MONDO:0015131, ITPR3-related

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Three different variants in two unrelated compound heterozygous patients demonstrated impaired IP3-mediated Ca2+ responses in vitro, translating into deficient T-cell activation and
proliferation. P1 was a 12-year-old male patient who presented with combined immunodeficiency with profoundly low numbers of B and T cells and required hematopoietic stem cell transplantation (HSCT) at the age of 6 years. P2 was a 36-year-old male
who presented with recurring immune thrombocytopenia (ITP), requiring splenectomy at the age of 19 years. He subsequently suffered from autoimmune hemolytic anemia, susceptibility to infections, and enteropathy. Hypogammaglobulinemia and low numbers of switched memory B cells led to a diagnosis of CVID and monthly treatment with intravenous
immunoglobulin. The patient did not show signs of neuromuscular disorder.
Authors suggest a partially recessive mode of inheritance with complete defects in these causing embryonic lethality.
Sources: Literature
Created: 26 Jul 2024, 3:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined Immune deficiency, immune dysregulation

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined immunodeficiency, MONDO:0015131, ITPR3-related
OMIM
147267
Clinvar variants
Variants in ITPR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITPR3 were changed from Combined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpr3 has been classified as Green List (High Evidence).

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITPR3 were changed from ombined immunodeficiency, MONDO:0015131, ITPR3-related to Combined immunodeficiency, MONDO:0015131, ITPR3-related

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITPR3 were changed from Combined Immune deficiency, immune dysregulation to ombined immunodeficiency, MONDO:0015131, ITPR3-related

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpr3 has been classified as Green List (High Evidence).

26 Jul 2024, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: ITPR3 was added gene: ITPR3 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: ITPR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPR3 were set to PMID: 36302985 Phenotypes for gene: ITPR3 were set to Combined Immune deficiency, immune dysregulation Review for gene: ITPR3 was set to GREEN