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Mendeliome

Gene: ACKR3

Amber List (moderate evidence)

ACKR3 (atypical chemokine receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000144476
EnsemblGeneIds (GRCh37): ENSG00000144476
OMIM: 610376, Gene2Phenotype
ACKR3 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculomotor-abducens synkinesis, MIM# 619215

Elena Savva (Victorian Clinical Genetics Services)

I don't know

No phenotype currently listed in OMIM

PMID: 3121183 - 1 family (3 siblings and a cousin) with congenital ptosis and oculomotor synkinesis. Mouse model reciprocated the phenotype. Functional assay using transfected HEK293 cells show protein mislocalization and lower binding affinity

Emerging gene-disease association
Sources: Literature
Created: 20 Apr 2020, 4:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculomotor synkinesis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Oculomotor-abducens synkinesis, MIM# 619215
OMIM
610376
Clinvar variants
Variants in ACKR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis; Ptosis to Oculomotor-abducens synkinesis, MIM# 619215

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ackr3 has been classified as Amber List (Moderate Evidence).

20 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis to Oculomotor synkinesis; Ptosis

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ackr3 has been classified as Amber List (Moderate Evidence).

20 Apr 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: ACKR3 was added gene: ACKR3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ACKR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACKR3 were set to PMID: 3121183 Phenotypes for gene: ACKR3 were set to Oculomotor synkinesis Review for gene: ACKR3 was set to AMBER