Primary immunodeficiencyGene: RC3H1
Comment on list classification: Not associated with phenotype in OMIM (lasted edited 01/27/2017) or in Gen2Phen. PMID 31636267 reports a biallelic nonsense variant (p.R688*), in a case with immune dysregulation syndrome
characterized by severe hyperinflammation in a consanguineous family. The association of this variant with the phenotype is supported by functional studies and mouse model (PMID 15917799).
Created: 14 Apr 2020, 2:57 p.m. | Last Modified: 14 Apr 2020, 2:57 p.m.
Panel Version: 2.57
Comment on list classification: New gene for review. Single case recommend further discussion, suggest Amber
Created: 26 Feb 2020, 4:34 p.m. | Last Modified: 26 Feb 2020, 4:34 p.m.
Panel Version: 2.7
New gene suggested by expert reviewer- unable to do a full curational review (Amber rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.
Created: 22 Jan 2020, 11:37 a.m. | Last Modified: 22 Jan 2020, 11:37 a.m.
Panel Version: 2.0
Single case, homozygous nonsense in consanguineous kindred, clinical phenotype resembling HLH (PMID: 31636267). Convincing functional evidence of causation with phenotypic similarities to mouse model. Promote to Green List once second unrelated case identified.
Created: 18 Jan 2020, 6:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Publications for gene: RC3H1 were set to PMID: 31636267
Gene: rc3h1 has been classified as Red List (Low Evidence).
gene: RC3H1 was added gene: RC3H1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RC3H1 were set to PMID: 31636267 Phenotypes for gene: RC3H1 were set to Hemophagocytic lymphohistiocytosis Penetrance for gene: RC3H1 were set to unknown