### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COQ5) # 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}}" "COQ5" "coenzyme Q5 homolog, methyltransferase (S. cerevisiae)" "12" "q24.31" "unknown" "NC_000012.11" "UD_132319683086" "" "https://www.LOVD.nl/COQ5" "" "1" "28722" "84274" "616359" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/COQ5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-23 21:23:58" "00000" "2024-04-19 20:27:30" ## 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}}" "00005540" "COQ5" "coenzyme Q5 homolog, methyltransferase (S. cerevisiae)" "001" "NM_032314.3" "" "NP_115690.3" "" "" "" "-20" "1489" "984" "120966964" "120941082" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04199" "COQ10D" "coenzyme Q10 deficiency (COQ10D)" "" "" "" "" "" "00006" "2015-02-19 22:33:41" "" "" "06975" "COQ10D9" "coenzyme Q10 deficiency, primary, type 9" "AR" "619028" "" "" "" "00006" "2022-11-23 21:23:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COQ5" "04199" "COQ5" "06975" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00065123" "" "" "" "2" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "2-generation family, 2-affected sisters, PatV1[EG01]" "F" "yes" "Egypt" ">24y" "0" "" "Combiantion of valproate and carbamazepine" "" "26996948-FamPatV1[EG01]" "00065125" "" "" "00065123" "1" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "PatV5[EG02]" "F" "yes" "Egypt" ">14y" "0" "" "Combiantion of valproate and topiramate" "" "26996948-FamPatV5[EG02]" "00424946" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam11" "00424951" "" "" "" "1" "" "00006" "{PMID:Jurkute 2022:36266294}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00065123" "00139" "00065125" "00139" "00424946" "00112" "00424951" "00112" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 04199, 06975 ## Count = 4 "{{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}}" "0000051228" "00139" "00065123" "01604" "Familial, autosomal recessive" "" "seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999); profound intellectual disability (HP:0002187); motor delay (HP:0001270); no speech delay (-HP:0000750)" "" "" "4m" "" "" "" "" "" "" "0000051230" "00139" "00065125" "01604" "Familial, autosomal recessive" "" "seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999); profound intellectual disability (HP:0002187); motor delay (HP:0001270); no speech delay (-HP:0000750)" "00y04m" "" "" "" "" "" "" "" "" "0000316145" "00112" "00424946" "00006" "Familial, autosomal recessive" "56y" "49y-incidental finding during routine check-up, prolonged dark adaptation, peripheral visual field loss; retinitis pigmentosa; hypertension" "49y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000316150" "00112" "00424951" "00006" "Familial, autosomal recessive" "38y" "muscle weakness, 14y-vision problems in dark; retinitis pigmentosa, nystagmus; hyposthenia, infantile appearance, hypertelorism, undeveloped fertile function" "05y" "" "" "" "" "" "" "" "retinitis pigmentosa" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065274" "00065123" "1" "01604" "01604" "2016-05-19 12:32:45" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065276" "00065125" "1" "01604" "01604" "2016-05-19 13:00:15" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000426264" "00424946" "1" "00006" "00006" "2022-11-23 21:14:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000426269" "00424951" "1" "00006" "00006" "2022-11-23 21:56:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000065274" "PIGG" "0000065276" "PIGG" ## 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 = 9 "{{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}}" "0000336586" "3" "70" "12" "120960050" "120960050" "subst" "4.06101E-6" "00006" "COQ5_000001" "g.120960050C>T" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.120522247C>T" "" "likely pathogenic" "" "0000336589" "3" "70" "12" "120960050" "120960050" "subst" "4.06101E-6" "00006" "COQ5_000001" "g.120960050C>T" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.120522247C>T" "" "likely pathogenic" "" "0000546821" "0" "30" "12" "120941890" "120941890" "subst" "0" "01804" "COQ5_000002" "g.120941890C>T" "" "" "" "COQ5(NM_032314.3):c.771-6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.120504087C>T" "" "likely benign" "" "0000903227" "21" "90" "12" "120941638" "120941638" "del" "1.21874E-5" "00006" "COQ5_000003" "g.120941638del" "" "{PMID:Jurkute 2022:36266294}" "" "933delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.120503835del" "" "pathogenic (recessive)" "ACMG" "0000903228" "10" "70" "12" "120942793" "120942793" "subst" "0.000308787" "00006" "COQ5_000004" "g.120942793A>C" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, PM3, BP4" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000903236" "1" "70" "12" "120954577" "120954577" "subst" "1.21825E-5" "00006" "COQ5_000005" "g.120954577G>A" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000903237" "2" "70" "12" "120942793" "120942793" "subst" "0.000308787" "00006" "COQ5_000004" "g.120942793A>C" "" "{PMID:Jurkute 2022:36266294}" "" "" "ACMG PM2, PM3, BP4" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000980070" "0" "50" "12" "120947824" "120947824" "subst" "2.84262E-5" "01804" "COQ5_000006" "g.120947824T>C" "" "" "" "COQ5(NM_032314.4):c.677A>G (p.(Asp226Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980071" "0" "50" "12" "120960091" "120960091" "subst" "4.06065E-5" "01804" "COQ5_000007" "g.120960091A>C" "" "" "" "COQ5(NM_032314.4):c.278T>G (p.(Val93Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 COQ5 ## Count = 9 "{{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}}" "0000336586" "00005540" "70" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Gly107Arg" "" "0000336589" "00005540" "70" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Gly107Arg" "" "0000546821" "00005540" "30" "771" "-6" "771" "-6" "c.771-6G>A" "r.(=)" "p.(=)" "" "0000903227" "00005540" "90" "933" "0" "933" "0" "c.933del" "r.(?)" "p.(Tyr311*)" "" "0000903228" "00005540" "70" "682" "-7" "682" "-7" "c.682-7T>G" "r.[682_770del,575_770del]" "p.[Gln230*,Leu193Phefs*27]" "4i" "0000903236" "00005540" "70" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000903237" "00005540" "70" "682" "-7" "682" "-7" "c.682-7T>G" "r.[682_770del,575_770del]" "p.[Gln230*,Leu193Phefs*27]" "4i" "0000980070" "00005540" "50" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Asp226Gly)" "" "0000980071" "00005540" "50" "278" "0" "278" "0" "c.278T>G" "r.(?)" "p.(Val93Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000065274" "0000336589" "0000065276" "0000336586" "0000426264" "0000903227" "0000426264" "0000903228" "0000426269" "0000903236" "0000426269" "0000903237"