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| Cytopenia - NOT Fanconi anaemia v5.6 | ACKR1 |
Ida Ertmanska changed review comment from: PMID: 35994632 Merz et al., 2023 The study found that 66.7% (80 of 120) of Black individuals had the Duffy-null phenotype and that there is a significant difference in absolute neutrophil counts (ANCs) between Duffy-null and Duffy non-null individuals (P < 0.001). Additionally, 19 of 80 (23.8%) Duffy-null individuals had an ANC of <2000 cells per μL compared with no Duffy non-null individuals. The Duffy-null phenotype is clinically insignificant; however, authors postulate Duffy-null-specific ANC reference ranges should be developed, and the term 'benign ethnic neutropenia' should be replaced with 'Duffy-null associated neutrophil count'. https://www.hematology.org/education/danc - Duffy-null individuals have no increased risk of infection but are often incorrectly labeled as having neutropenia - reason for inclusion of this gene Duffy null is characterized by the presence of Fy(b) antibodies on nonerythroid cells, but an absence of Fy(b) on erythrocytes. ACKR1 is associated with AD, AR [Blood group, Duffy system], OMIM:110700 in OMIM (accessed 17th Jun 2026).; to: PMID: 35994632 Merz et al., 2023 The study found that 66.7% (80 of 120) of Black individuals had the Duffy-null phenotype and that there is a significant difference in absolute neutrophil counts (ANCs) between Duffy-null and Duffy non-null individuals (P < 0.001). Additionally, 19 of 80 (23.8%) Duffy-null individuals had an ANC of <2000 cells per μL compared with no Duffy non-null individuals. The Duffy-null phenotype is clinically insignificant; however, authors postulate Duffy-null-specific ANC reference ranges should be developed, and the term 'benign ethnic neutropenia' should be replaced with 'Duffy-null associated neutrophil count'. https://www.hematology.org/education/danc - Duffy-null individuals have no increased risk of infection but are often incorrectly labeled as having neutropenia - reason for inclusion of this gene ACKR1 is associated with AD, AR [Blood group, Duffy system], OMIM:110700 in OMIM (accessed 17th Jun 2026). Duffy null is characterized by the presence of Fy(b) antibodies on nonerythroid cells, but an absence of Fy(b) on erythrocytes. |
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| Cytopenia - NOT Fanconi anaemia v5.6 | ACKR1 |
Ida Ertmanska changed review comment from: PMID: 35994632 Merz et al., 2023 The study found that 66.7% (80 of 120) of Black individuals had the Duffy-null phenotype and that there is a significant difference in absolute neutrophil counts (ANCs) between Duffy-null and Duffy non-null individuals (P < 0.001). Additionally, 19 of 80 (23.8%) Duffy-null individuals had an ANC of <2000 cells per μL compared with no Duffy non-null individuals. The Duffy-null phenotype is clinically insignificant; however, authors postulate Duffy-null-specific ANC reference ranges should be developed, and the term 'benign ethnic neutropenia' should be replaced with 'Duffy-null associated neutrophil count'. https://www.hematology.org/education/danc - Duffy-null individuals have no increased risk of infection but are often incorrectly labeled as having neutropenia - reason for inclusion of this gene ACKR1 is associated with AD, AR [Blood group, Duffy system], OMIM:110700 in OMIM (accessed 17th Jun 2026).; to: PMID: 35994632 Merz et al., 2023 The study found that 66.7% (80 of 120) of Black individuals had the Duffy-null phenotype and that there is a significant difference in absolute neutrophil counts (ANCs) between Duffy-null and Duffy non-null individuals (P < 0.001). Additionally, 19 of 80 (23.8%) Duffy-null individuals had an ANC of <2000 cells per μL compared with no Duffy non-null individuals. The Duffy-null phenotype is clinically insignificant; however, authors postulate Duffy-null-specific ANC reference ranges should be developed, and the term 'benign ethnic neutropenia' should be replaced with 'Duffy-null associated neutrophil count'. https://www.hematology.org/education/danc - Duffy-null individuals have no increased risk of infection but are often incorrectly labeled as having neutropenia - reason for inclusion of this gene Duffy null is characterized by the presence of Fy(b) antibodies on nonerythroid cells, but an absence of Fy(b) on erythrocytes. ACKR1 is associated with AD, AR [Blood group, Duffy system], OMIM:110700 in OMIM (accessed 17th Jun 2026). |
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| Cytopenia - NOT Fanconi anaemia v5.6 | ACKR1 | Ida Ertmanska Classified gene: ACKR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.6 | ACKR1 | Ida Ertmanska Added comment: Comment on list classification: The ACKR1-related Duffy-null phenotype (or ACKR1/DARC-associated neutropenia, ADAN) is fairly common, particularly in Black individuals. However, as reviewed by Carl Fratter, diagnosis of ADAN would explain the mildly reduced neutrophil counts and help guide further clinical management of patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.6 | ACKR1 | Ida Ertmanska Gene: ackr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.5 | ACKR1 | Ida Ertmanska Phenotypes for gene: ACKR1 were changed from 613665 Benign hereditary neutropenia to [Blood group, Duffy system], OMIM:110700; Duffy blood group, HP:0032373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.4 | ACKR1 | Ida Ertmanska Publications for gene: ACKR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.3 | ACKR1 | Ida Ertmanska Mode of inheritance for gene: ACKR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.2 | ACKR1 |
Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: ACKR1. Tag Q2_26_NHS_review tag was added to gene: ACKR1. |
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| Cytopenia - NOT Fanconi anaemia v5.2 | ACKR1 |
Ida Ertmanska changed review comment from: PMID: 35994632 Merz et al., 2023 The study found that 66.7% (80 of 120) of Black individuals had the Duffy-null phenotype and that there is a significant difference in absolute neutrophil counts (ANCs) between Duffy-null and Duffy non-null individuals (P < 0.001). Additionally, 19 of 80 (23.8%) Duffy-null individuals had an ANC of <2000 cells per μL compared with no Duffy non-null individuals. The Duffy-null phenotype is clinically insignificant; however, authors postulate Duffy-null-specific ANC reference ranges should be developed, and the term 'benign ethnic neutropenia' should be replaced with 'Duffy-null associated neutrophil count'. ACKR1 is associated with AD, AR [Blood group, Duffy system], OMIM:110700 in OMIM (accessed 17th Jun 2026).; to: PMID: 35994632 Merz et al., 2023 The study found that 66.7% (80 of 120) of Black individuals had the Duffy-null phenotype and that there is a significant difference in absolute neutrophil counts (ANCs) between Duffy-null and Duffy non-null individuals (P < 0.001). Additionally, 19 of 80 (23.8%) Duffy-null individuals had an ANC of <2000 cells per μL compared with no Duffy non-null individuals. The Duffy-null phenotype is clinically insignificant; however, authors postulate Duffy-null-specific ANC reference ranges should be developed, and the term 'benign ethnic neutropenia' should be replaced with 'Duffy-null associated neutrophil count'. https://www.hematology.org/education/danc - Duffy-null individuals have no increased risk of infection but are often incorrectly labeled as having neutropenia - reason for inclusion of this gene ACKR1 is associated with AD, AR [Blood group, Duffy system], OMIM:110700 in OMIM (accessed 17th Jun 2026). |
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| Cytopenia - NOT Fanconi anaemia v5.2 | ACKR1 | Ida Ertmanska edited their review of gene: ACKR1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.2 | ACKR1 | Ida Ertmanska reviewed gene: ACKR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35994632; Phenotypes: [Blood group, Duffy system], OMIM:110700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.2 | ACKR1 | Carl Fratter reviewed gene: ACKR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37008163; Phenotypes: OMIM 611862 ACKR1/DARC-associated neutropenia (ADAN); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | ACKR1 |
Louise Daugherty Source Expert Review Amber was added to ACKR1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.12 | ACKR1 |
Louise Daugherty Mode of inheritance for gene ACKR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1 |
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| Cytopenia - NOT Fanconi anaemia v0.11 | ACKR1 | Louise Daugherty reviewed gene: ACKR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | ACKR1 | Frances Smith reviewed gene: ACKR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 613665 Benign hereditary neutropenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | ACKR1 | Louise Daugherty Added phenotypes 613665 Benign hereditary neutropenia for gene: ACKR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.8 | ACKR1 | Louise Daugherty Source NHS GMS was added to ACKR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | ACKR1 |
Louise Daugherty gene: ACKR1 was added gene: ACKR1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: ACKR1 was set to |
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