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Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 RNF31 Ida Ertmanska Phenotypes for gene: RNF31 were changed from Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia; Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis; Polyglucosan body myopathy, early-onset, with or without immunodeficiency; autoinflammation and combined immunodeficiency; Combined immunodeficiencies with associated or syndromic features to Immunodeficiency 115 with autoinflammation, OMIM:620632; immunodeficiency 115 with autoinflammation, MONDO:0957981
Primary immunodeficiency or monogenic inflammatory bowel disease v9.8 RNF31 Ida Ertmanska Publications for gene: RNF31 were set to 30936877; 32086639; 26008899; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v9.7 RNF31 Ida Ertmanska Classified gene: RNF31 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.7 RNF31 Ida Ertmanska Added comment: Comment on list classification: There are now more than 3 unrelated individuals with biallelic RNF31 (HOIP) variants and primary immunodeficiency with autoinflammation. Hence, this gene can be promoted to Green at the next update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.7 RNF31 Ida Ertmanska Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.6 RNF31 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: RNF31.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.6 RNF31 Ida Ertmanska changed review comment from: PMID: 41026334 L. Wang et al., 2025
Proband: 1-year-6-month-old Chinese boy with early-onset autoinflammation and immunodeficiency, leading to early death. He experienced recurrent fever, multiple site infections, and chronic diarrhea from the neonatal period. WES + Sanger detected comp het RNF31 variants: c.1654 C > T, p.Gln552Ter and c.3038 A > C, p.His1013Pro. Diagnosed with purulent meningitis, pneumonia, urinary tract infection, peritonitis, and growth retardation before 18 months of age. Immunophenotyping showed decrease in T cell frequency and total CD4 T cell counts.

PMID: 39009172 M. Wang et al., 2024
12yo Chinese male, homozygous for c.1883del, p.Gly628Alafs*52 in RNF31. He presented with infectious mononucleosis, necrotizing lymphadenitis, sepsis, primary peritonitis, lobar pneumonia, and recurrent viral and bacterial infections.
Functional: variant impairs MAPK signalling and sensitizes cells to TNF-induced cell death.

PMID: 30936877 Oda et al., 2019
8 year-old girl who presented with early-onset immune deficiency and autoinflammation. Noted to have eczematous dermatitis and chronic inflammation on skin biopsy. She had comp het variants in RNF31: c.1197G>C and c.1737+3A>G. RNA extracted from patient cells showed alternatively spliced transcripts not present in control cells

PMID: 26008899 Boisson et al., 2015
Female patient born to consanguineous parents of Kuwaiti descent; presented with multiorgan autoinflammation, systemic lymphangiectasia, weakness at lower extremities, subclinical amylopectinosis, and a combined immunodeficiency manifesting as chronic diarrhea and recurrent viral and bacterial infections, associated with lymphopenia, antibody deficiency and an impaired distribution and function of T lymphocytes.
She was homozygous for c.215T>C, p.Leu72Pro in RNF31; to: PMID: 41026334 L. Wang et al., 2025
Proband: 1-year-6-month-old Chinese boy with early-onset autoinflammation and immunodeficiency, leading to early death. He experienced recurrent fever, multiple site infections, and chronic diarrhea from the neonatal period. WES + Sanger detected comp het RNF31 variants: c.1654 C > T, p.Gln552Ter and c.3038 A > C, p.His1013Pro. Diagnosed with purulent meningitis, pneumonia, urinary tract infection, peritonitis, and growth retardation before 18 months of age. Immunophenotyping showed decrease in T cell frequency and total CD4 T cell counts.

PMID: 39009172 M. Wang et al., 2024
12yo Chinese male, homozygous for c.1883del, p.Gly628Alafs*52 in RNF31. He presented with infectious mononucleosis, necrotizing lymphadenitis, sepsis, primary peritonitis, lobar pneumonia, and recurrent viral and bacterial infections.
Functional: variant impairs MAPK signalling and sensitizes cells to TNF-induced cell death.

PMID: 30936877 Oda et al., 2019
8 year-old girl who presented with early-onset immune deficiency and autoinflammation. Noted to have eczematous dermatitis and chronic inflammation on skin biopsy. She had comp het variants in RNF31: c.1197G>C and c.1737+3A>G. RNA extracted from patient cells showed alternatively spliced transcripts not present in control cells

PMID: 26008899 Boisson et al., 2015
Female patient born to consanguineous parents of Kuwaiti descent; presented with multiorgan autoinflammation, systemic lymphangiectasia, weakness at lower extremities, subclinical amylopectinosis, and a combined immunodeficiency manifesting as chronic diarrhea and recurrent viral and bacterial infections, associated with lymphopenia, antibody deficiency and an impaired distribution and function of T lymphocytes. She was homozygous for c.215T>C, p.Leu72Pro in RNF31.

The association between RNF31 and AR immunodeficiency 115 with autoinflammation was classified as Moderate in ClinGen (SCID-CID GCEP, 2025).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.6 RNF31 Ida Ertmanska reviewed gene: RNF31: Rating: GREEN; Mode of pathogenicity: None; Publications: 26008899, 30936877, 39009172, 41026334; Phenotypes: Immunodeficiency 115 with autoinflammation, OMIM:620632, immunodeficiency 115 with autoinflammation, MONDO:0957981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RNF31 Eleanor Williams Source Other was added to RNF31.
Publications for gene RNF31 were updated from 32048120; 26008899; 32086639; 30936877 to 30936877; 32086639; 26008899; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RNF31 Eleanor Williams reviewed gene: RNF31: Rating: ; Mode of pathogenicity: ; Publications: 26008899; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Classified gene: RNF31 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on expert review and evidence of a second case.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.96 RNF31 Ivone Leong Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.95 RNF31 Ivone Leong Publications for gene: RNF31 were set to 32048120; 26008899; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RNF31 Louise Daugherty Source IUIS Classification December 2019 was added to RNF31.
Added phenotypes Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia; Combined immunodeficiencies with associated or syndromic features for gene: RNF31
Publications for gene RNF31 were updated from 26008899 to 32048120; 26008899; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty marked gene: RNF31 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty classified RNF31 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty commented on gene: RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty commented on gene: RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Sophie Hambleton reviewed gene: RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Sarah Leigh edited their review of gene: RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty classified RNF31 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty commented on RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty reviewed RNF31
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease RNF31 Louise Daugherty Added gene to panel