Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: ACP5

Green List (high evidence)

ACP5 (acid phosphatase 5, tartrate resistant)
EnsemblGeneIds (GRCh38): ENSG00000102575
EnsemblGeneIds (GRCh37): ENSG00000102575
OMIM: 171640, Gene2Phenotype
ACP5 is in 11 panels

5 reviews

Abdelazeem Elhabyan (Arizona State University)

Green List (high evidence)

I agree with its relevance to our viral susceptibility panel COVID19 because of its rule in immune system regulation and also its high expression levels in lungs
https://www.ncbi.nlm.nih.gov/gene/54
Created: 7 Apr 2020, 10:53 a.m. | Last Modified: 7 Apr 2020, 10:53 a.m.
Panel Version: 0.59

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ACP5 .PanelApp HGNC gene symbol check: ACP5 . IUIS Disease: Spondyloenchondro-dysplasia with immune dysregulation (SPENCD) . IUIS Inheritance: AR .T cells: Normal, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections . IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Type 1 Interferonopathies
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed status from Amber to Green, there are more than 3 unrelated cases to support the PID phenotype
Created: 30 Apr 2018, 1:58 p.m.
Comment on publications: Added publications to support the phenotype. From OMIM: In 10 patients (8 families) with spondyloenchondrodysplasia with immune dysregulation (SPENCDI) Briggs et al. (2011) PMID: 21217755 identified homozygosity or compound heterozygosity for mutations in the ACP5. In vivo testing confirmed a loss of expressed protein, and all 8 cases assayed showed elevated serum interferon alpha activity, with gene expression profiling in whole blood defining a type I interferon signature. Also Lausch et al. (2011) PMID:21217752 mapped SPENCDI to chromosome 19p13 and identified homozygous or compound heterozygous mutations in the ACP5 gene in 14 affected individuals from 11 families, they also demonstrated that the mutations abolished TRAP enzyme function in serum and cells of affected individuals, and that phosphorylated osteopontin accumulated in serum, urine, and cells cultured from TRAP-deficient individuals. Case-derived dendritic cells exhibited an altered cytokine profile and were more potent than matched controls in stimulating allogeneic T-cell proliferation in mixed lymphocyte reactions. In a girl who had severe immune dysregulation with neurologic impairment and only minor bone changes, Girschick et al. (2015) PMID: 26346816 identified compound heterozygosity for a missense mutation and a 1-bp duplication in the ACP5 gene. The authors concluded that mutation in ACP5 can cause severe immune dysregulation and neurologic impairment even in the absence of metaphyseal dysplasia. In a Turkish sister and brother exhibiting spondyloenchondrodysplasia without immune dysregulation or neurologic abnormalities, de Bruin et al. (2016) PMID:26789720 performed exome sequencing and identified homozygosity for a frameshift mutation in the ACP5 gene
Created: 30 Apr 2018, 1:56 p.m.
It is a confirmed DD gene for Spondyloenchondrodysplasia with immune dysregulation, which includes CNS calcifications. More than 3 families reported in the publications provided.
Created: 30 Apr 2018, 1:41 p.m.
from OMIM: Spondyloenchondrodysplasia with immune dysregulation is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia with immune dysfunction and neurologic involvement.
Created: 30 Apr 2018, 1:39 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ACP5, PanelApp HGNC gene symbol check: ACP5, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Type 1 interferonopathies / Type 1 interferonopathies
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ACP5, GRID_Gene_Symbol: ACP5, GRID_Transcript_ENS_Community submitted: ENST00000592828, GRID_Transcript_RefSeq: NM_001111034.2, GRID_Transcript_ENS_used_on_Production: ENST00000592828
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies
  • Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections
  • Spondyloenchondrodysplasia with immune dysregulation, 607944
  • Type 1 interferonopathies
  • Autoinflammatory Disorders
OMIM
171640
Clinvar variants
Variants in ACP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: ACP5 was added gene: ACP5 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 21217752; 26789720; 21217755; 26951490; 18924170; 26346816 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies; Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections; Spondyloenchondrodysplasia with immune dysregulation, 607944; Type 1 interferonopathies; Autoinflammatory Disorders