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COVID-19 research

Gene: RC3H1

Amber List (moderate evidence)

RC3H1 (ring finger and CCCH-type domains 1)
EnsemblGeneIds (GRCh38): ENSG00000135870
EnsemblGeneIds (GRCh37): ENSG00000135870
OMIM: 609424, Gene2Phenotype
RC3H1 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

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: 0.93

Louise Daugherty (Genomics England Curator)

I don't know

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

Owen Siggs (Flinders University)

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.
Sources: Literature
Created: 18 Jan 2020, 6:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hemophagocytic lymphohistiocytosis
OMIM
609424
Clinvar variants
Variants in RC3H1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rc3h1 has been classified as Amber List (Moderate Evidence).

14 Apr 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RC3H1 were set to PMID: 31636267

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RC3H1 was added gene: RC3H1 was added to Viral susceptibility. Sources: Expert Review Red,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