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  3. RC3H1
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Autoinflammatory Disorders

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data including mouse model.
Sources: Literature
Created: 30 Apr 2020, 10:15 p.m. | Last Modified: 30 Apr 2020, 10:19 p.m.
Panel Version: 0.77

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6 618998

Publications

Created: 30 Apr 2020, 10:15 p.m.
Last Modified: 30 Apr 2020, 10:19 p.m.
Panel version: 0.93

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Relapsing HLH
  • Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998
OMIM
609424
Clinvar variants
Variants in RC3H1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RC3H1 were changed from Relapsing HLH to Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998

30 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rc3h1 has been classified as Red List (Low Evidence).

30 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RC3H1 was added gene: RC3H1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RC3H1 were set to 31636267 Phenotypes for gene: RC3H1 were set to Relapsing HLH Review for gene: RC3H1 was set to RED