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Recognized gene
PRF1
Normalized c.HGVS
c.1097A>G, c.112G>A, c.1135C>T, c.1136G>A, c.1202C>T and 38 more
Normalized p.HGVS
p.(Ala211Thr), p.(Ala235Val), p.(Ala401Val), p.(Arg104Cys), p.(Arg119Trp) and 38 more
Matching records
113
PM3-positive records
27
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| PRF1 |
NM_001083116.3:c.559C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with Thr450Met
context: Confirmed in trans
|
39434014
Pediatric CNS-isolated hemophagocytic lymphohistiocytosis with brain hemorrhages: a case report.
BMC neurology, 2024
|
Main article | |
| PRF1 |
NM_001083116.3:c.559C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Thr450Met
context: Compound heterozygous candidate
|
40761310
Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy of PRF1 mutation.
Frontiers in genetics, 2025
|
Main article | |
| PRF1 |
NM_001083116.3:c.380A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.853_855 delAAG; delAAG
context: Compound heterozygous candidate
|
40536602
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.
Journal of clinical immunology, 2025
|
Main article | |
| PRF1 |
NM_001083116.3:c.208G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40425997
Clinical features, course, and risk factors of infection-associated secondary hemophagocytic lymphohistiocytosis.
Infection, 2025
|
Main article | |
| PRF1 |
NM_001083116.3:c.211G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.272C>T; A91V
context: Compound heterozygous candidate
|
40090000
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Blood, 2025
|
Main article | |
| PRF1 |
NM_001083116.3:c.310C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.272C>T; A91V
context: Compound heterozygous candidate
|
40090000
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Blood, 2025
|
Main article | |
| PRF1 |
NM_001083116.3:c.382G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.272 C>T; A91V
context: Compound heterozygous candidate
|
40090000
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Blood, 2025
|
Main article | |
| PRF1 |
NM_001083116.3:c.529C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.272C>T; A91V
context: Confirmed in trans
|
40090000
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Blood, 2025
|
Main article | |
| PRF1 |
NM_001083116.3:c.563C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.272C>T; A91V
context: Compound heterozygous candidate
|
40090000
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants.
Blood, 2025
|
Main article | |
| PRF1 |
NM_001083116.3:c.563C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with Pro187Ser; Thr450Met
context: Confirmed in trans
|
39434014
Pediatric CNS-isolated hemophagocytic lymphohistiocytosis with brain hemorrhages: a case report.
BMC neurology, 2024
|
Main article | |
| PRF1 |
NM_001083116.3:c.310C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.272C>T; A91V; Ala91Val
context: Confirmed in trans
|
38474010
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
International journal of molecular sciences, 2024
|
Main article | |
| PRF1 |
NM_001083116.3:c.355C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.136G>U; c.272C>T; p. Ala91Val; +1 more
context: Compound heterozygous candidate
|
38149249
Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Frontiers in immunology, 2023
|
Main article | |
| PRF1 |
NM_001083116.3:c.380A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.853_855del; p.285del; del
context: Compound heterozygous candidate
|
37749038
[Clinical characteristics of primary hemophagocytic lymphohistiocytosis associated with perforin gene deficiency: a single-center retrospective study].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi, 2023
|
Main article | |
| PRF1 |
NM_001083116.3:c.355C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p. Ala91Val; p.Glu46stop
context: Compound heterozygous candidate
|
37390248
Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report.
Medicine, 2023
|
Main article | |
| PRF1 |
NM_001083116.3:c.380A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.853_855delAAG; p.K285del; Frameshift mutation
context: Compound heterozygous candidate
|
34368327
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
World journal of clinical cases, 2021
|
Main article | |
| PRF1 |
NM_001083116.3:c.674G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.65delC; p.P22RfsX29
context: Compound heterozygous candidate
|
34368327
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
World journal of clinical cases, 2021
|
Main article | |
| PRF1 |
NM_001083116.3:c.98G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C10T; p.R4C
context: Compound heterozygous candidate
|
34368327
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
World journal of clinical cases, 2021
|
Main article | |
| PRF1 |
NM_001083116.3:c.674G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R49Q
context: Compound heterozygous candidate
|
34185399
Clinical and genetic features of Epstein-Barr virus-triggered late-onset primary hemophagocytic lymphohistiocytosis: Ten pedigrees study.
Clinical and translational medicine, 2021
|
Main article | |
| PRF1 |
NM_001083116.3:c.98G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C10T; p.R4C
context: Compound heterozygous candidate
|
30899265
Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.
Frontiers in immunology, 2019
|
Main article | |
| PRF1 |
NM_001083116.3:c.380A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.853-855del; p.K285del
context: Compound heterozygous candidate
|
30671214
Soluble ST2 and CD163 as Potential Biomarkers to Differentiate Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome.
Mediterranean journal of hematology and infectious diseases, 2019
|
Main article | |