### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARPC5) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "ARPC5" "actin related protein 2/3 complex, subunit 5, 16kDa" "1" "q" "unknown" "NC_000001.10" "UD_134711733998" "" "http://www.LOVD.nl/ARPC5" "" "1" "708" "10092" "604227" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-26 19:48:47" "00006" "2025-03-26 21:40:18" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002904" "ARPC5" "transcript variant 1" "001" "NM_005717.3" "" "NP_005708.1" "" "" "" "-282" "1795" "456" "183605076" "183595328" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "07160" "IMD113" "immunodeficiency, type 113, with autoimmunity and autoinflammation" "AR" "620565" "" "" "" "00006" "2025-03-26 19:47:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ARPC5" "07160" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00464541" "" "" "" "1" "" "00006" "{PMID:Nunes-Santos 2023:37349293}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Lebanon" "" "0" "" "" "" "Pat1" "00464542" "" "" "" "1" "" "00006" "{PMID:Nunes-Santos 2023:37349293}" "2-generation family, 1 affected (with deceased sister), unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00464541" "05292" "00464542" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05292, 07160 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000350541" "05292" "00464542" "00006" "Familial, autosomal recessive" "01y" "see paper; ..., omphalitis; severe/recurrent bacterial respiratory tract infections, multifocal aseptic bone lesions; impaired wound heeling; scoliosis; pneumatoceles; no autoimmunity; anemia; leukocytosis; lymphocytosis; neutrophilia; eosinophilia; monocytosis; no thrombocytopenia; elevated serum IgA, elevated serum Ige, high acute phase reactants" "" "" "omphalitis" "" "" "" "" "IMD113" "" "0000350542" "05292" "00464541" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., intrauterine growth restriction; birth-41wg; gastrointestinal/respiratory tract bleeding, hepatosplenomegaly, Evans syndrome (autoimmune hemolytic anemia and thrombocytopenia); infections; impaired wound heeling; scoliosis; pneumatoceles; autoimmunity; anemia; leukocytosis; lymphocytosis; neutrophilia; eosinophilia; monocytosis; thrombocytopenia; elevated serum IgA, normal level IgE level, high acute phase reactants; recurrent episodes of paralytic ileus; celiac disease; hepatitis; minimal change disease nephropathy; short stature, facial dysmorphisms" "" "" "" "" "" "" "" "IMD113" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000466180" "00464541" "1" "00006" "00006" "2025-03-26 19:53:13" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466181" "00464542" "1" "00006" "00006" "2025-03-26 19:57:25" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 2 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0001030073" "3" "90" "1" "183604772" "183604772" "subst" "0" "00006" "ARPC5_000001" "g.183604772G>T" "" "{PMID:Nunes-Santos 2023:37349293}" "" "" "" "Germline" "" "" "0" "" "" "g.183635637G>T" "" "pathogenic (recessive)" "" "0001030074" "3" "90" "1" "183604783" "183604784" "ins" "0" "00006" "ARPC5_000002" "g.183604783_183604784insCA" "" "{PMID:Nunes-Santos 2023:37349293}" "" "" "" "Germline" "" "" "0" "" "" "g.183635648_183635649insCA" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ARPC5 ## Count = 2 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0001030073" "00002904" "90" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Ser8*)" "" "0001030074" "00002904" "90" "11" "0" "12" "0" "c.11_12insTG" "r.(?)" "p.(Thr5AlafsTer48)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000466180" "0001030073" "0000466181" "0001030074"