Combined Immunodeficiency

Gene: ARPC5

Green List (high evidence)

ARPC5 (actin related protein 2/3 complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000162704
EnsemblGeneIds (GRCh37): ENSG00000162704
OMIM: 604227, Gene2Phenotype
ARPC5 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Features of autoinflammation common: haemolytic anaemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. More variable systemic features may include coeliac disease or enteropathy, ileus, nephropathy, eczema, and dermatomyositis.
Created: 20 Nov 2023, 9:25 a.m. | Last Modified: 20 Nov 2023, 9:25 a.m.
Panel Version: 1.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

4 individuals from 3 families reported with homozygous LoF variants. All had recurrent and severe infections. Other developmental anomalies were present but seemed variable.

PMID:37349293 reports 2 unrelated patients. Both had scoliosis. One had neurodevelopmental delay and brain atrophy. Patient 1 died at 15yo after a sudden episode of hemoptysis and hematochezia. Patient 2 died at 1yo because of progressive neurologic and respiratory disease; an autopsy was not performed.

PMID:37382373 reports 2 patients from the same family. One had multiple congenital anomalies including a congenital heart defect (CHD) (patent foramen ovale), cleft palate, and hypoplastic corpus callosum. The sibling also had CHD (moderate pulmonary stenosis and atrial septal defect).

Functional studies and a mouse model were supportive of the disease association.
Sources: Literature
Created: 6 Jul 2023, 2:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency, ARPC5-related MONDO:0015131

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565
OMIM
604227
Clinvar variants
Variants in ARPC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Nov 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARPC5 were changed from Combined immunodeficiency, ARPC5-related MONDO:0015131 to Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565

6 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: arpc5 has been classified as Green List (High Evidence).

6 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: arpc5 has been classified as Green List (High Evidence).

6 Jul 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: arpc5 has been removed from the panel.

6 Jul 2023, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: ARPC5 was added gene: ARPC5 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC5 were set to 37349293; 37382373 Phenotypes for gene: ARPC5 were set to Combined immunodeficiency, ARPC5-related MONDO:0015131 Review for gene: ARPC5 was set to GREEN gene: ARPC5 was marked as current diagnostic