Cytopenia - NOT Fanconi anaemia
Gene: ACKR1

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACKR1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613665 Benign hereditary neutropenia; PMID(s):
Created: 8 Feb 2019, 1:43 p.m.

Created: 8 Feb 2019, 1:43 p.m.

Panel version: 0.11

Frances Smith (King's College Hospital)

I don't know

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
613665 Benign hereditary neutropenia

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Feb 2019, 1:37 p.m.

Panel version: 0.10

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS
London South GLH

Phenotypes

613665 Benign hereditary neutropenia

OMIM

613665

Clinvar variants

Variants in ACKR1

Penetrance

None

Panels with this gene