Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: AMFR

AMFR (autocrine motility factor receptor)
EnsemblGeneIds (GRCh38): ENSG00000159461
EnsemblGeneIds (GRCh37): ENSG00000159461
OMIM: 603243, Gene2Phenotype
AMFR is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Red as currently there is only a single human case report linking this gene to immune dysfunction (PMID:38277122). Also unaffected carriers call into question the association but good functional work. Additional cases required to ascertain pathogenicity.
Created: 30 Jul 2025, 3:13 p.m. | Last Modified: 30 Jul 2025, 3:15 p.m.

Panel Version: 8.23

Created: 30 Jul 2025, 3:13 p.m.
Last Modified: 30 Jul 2025, 3:15 p.m.
Panel version: 8.23

Boaz Palterer (University of Florence)

Red List (low evidence)

1 patient from one kindred with severe disseminated VZV and HLH, incomplete penetrance as mother and siblings are not affected. Extensive functional ex-vivo and in-vitro data.
Sources: Literature
Created: 30 Jan 2024, 9:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Severe VZV; Varicella; HLH; Hemophagocytic lymphohistyocytosis

Publications

38277122

Created: 30 Jan 2024, 9:22 p.m.

Panel version: 4.163

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Severe VZV
Varicella
HLH
Hemophagocytic lymphohistyocytosis

OMIM

603243

Clinvar variants

Variants in AMFR

Penetrance

Incomplete

Publications

38277122

Panels with this gene

History Filter Activity

30 Jul 2025, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: amfr has been classified as Red List (Low Evidence).

30 Jan 2024, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: AMFR was added gene: AMFR was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: AMFR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AMFR were set to 38277122 Phenotypes for gene: AMFR were set to Severe VZV; Varicella; HLH; Hemophagocytic lymphohistyocytosis Penetrance for gene: AMFR were set to Incomplete Review for gene: AMFR was set to RED

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: AMFR