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  3. ACKR1
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IBMDx study

Gene: ACKR1

Amber List (moderate evidence)
ACKR1 (atypical chemokine receptor 1 (Duffy blood group))
EnsemblGeneIds (GRCh38): ENSG00000213088
EnsemblGeneIds (GRCh37): ENSG00000213088
OMIM: 613665, Gene2Phenotype
ACKR1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

c.-67T>C is associated with low neutrophil counts.
Sources: Expert Review
Created: 7 Nov 2024, 11:19 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
[Blood group, Duffy system] 110700; Duffy null susceptibility allele

Created: 7 Nov 2024, 11:19 p.m.

Panel version: 0.33

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • [Blood group, Duffy system] 110700
  • Duffy null susceptibility allele
OMIM
613665
Clinvar variants
Variants in ACKR1
Penetrance
None
Panels with this gene

History Filter Activity

7 Nov 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACKR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ackr1 has been classified as Amber List (Moderate Evidence).

7 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ackr1 has been classified as Amber List (Moderate Evidence).

7 Nov 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACKR1 was added gene: ACKR1 was added to IBMDx study. Sources: Expert Review Mode of inheritance for gene: ACKR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACKR1 were set to [Blood group, Duffy system] 110700; Duffy null susceptibility allele Review for gene: ACKR1 was set to AMBER