### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTCD3) # 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}}" "PTCD3" "pentatricopeptide repeat domain 3" "2" "p11.2" "unknown" "NC_000002.11" "UD_132464940858" "" "https://www.LOVD.nl/PTCD3" "" "1" "24717" "55037" "614918" "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/PTCD3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-09-19 15:22:13" "00000" "2025-11-01 13:22:20" ## 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}}" "00017081" "PTCD3" "Pentatricopeptide repeat domain 3" "001" "NM_017952.5" "" "NP_060422.4" "" "" "" "-66" "6668" "2070" "86333305" "86369280" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07" "05316" "COXPD" "combined oxidative phosphorylation deficiency" "" "" "" "" "" "00006" "2017-08-11 14:15:49" "" "" "07025" "COXPD51" "combined oxidative phosphorylation deficiency, type 51" "AR" "619057" "" "" "" "00006" "2023-09-18 12:12:19" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PTCD3" "05316" "PTCD3" "07025" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00436498" "" "" "" "1" "" "00006" "{PMID:Borna 2019:30607703}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "Japan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00436498" "00038" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00038, 05316, 07025 ## Count = 1 "{{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}}" "0000326675" "00038" "00436498" "00006" "Familial, autosomal recessive" "01y04m" "see paper; ..., 1y4m-died of respiratory failure; low birth weight 632g (− 4.26SD), height 28cm (− 4.7SD), OFC 23.2 cm (− 2.3SD); mental retardation, optic atrophy, MRI brain abnormal bilateral signals basal ganglia/brainstem; severe bilateral hearing loss" "" "" "" "" "" "" "" "COXPD51" "Leigh syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000437981" "00436498" "1" "00006" "00006" "2023-09-19 15:29:32" "00006" "2023-09-19 15:36:19" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "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 = 8 "{{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}}" "0000351394" "0" "10" "2" "86332809" "86332809" "subst" "0.807178" "02327" "POLR1A_000018" "g.86332809G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86105686G>A" "" "benign" "" "0000608140" "0" "30" "2" "86332852" "86332852" "subst" "4.46817E-5" "01943" "POLR1A_000038" "g.86332852G>A" "" "" "" "POLR1A(NM_015425.5):c.48C>T (p.S16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86105729G>A" "" "likely benign" "" "0000933480" "11" "90" "2" "86346042" "86346042" "subst" "4.11496E-6" "00006" "PTCD3_000001" "g.86346042A>G" "" "{PMID:Borna 2019:30607703}" "" "" "" "Germline" "" "" "0" "" "" "g.86118919A>G" "" "pathogenic (recessive)" "" "0000933481" "21" "90" "2" "86362078" "86362079" "dup" "0" "00006" "PTCD3_000002" "g.86362078_86362079dup" "" "{PMID:Borna 2019:30607703}" "" "1747_1748insCT" "" "Germline" "" "" "0" "" "" "g.86134955_86134956dup" "" "pathogenic (recessive)" "" "0000947976" "0" "30" "2" "86338249" "86338249" "subst" "0.00303434" "01804" "POLR1A_000063" "g.86338249G>A" "" "" "" "PTCD3(NM_017952.5):c.208G>A (p.(Val70Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947977" "0" "30" "2" "86360387" "86360387" "subst" "0" "02327" "PTCD3_000003" "g.86360387G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993064" "0" "50" "2" "86352144" "86352144" "subst" "8.94745E-5" "01804" "PTCD3_000004" "g.86352144T>A" "" "" "" "PTCD3(NM_017952.5):c.743T>A (p.(Phe248Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050720" "0" "30" "2" "86332845" "86332845" "subst" "0" "01804" "POLR1A_000090" "g.86332845T>C" "" "" "" "POLR1A(NM_015425.6):c.55A>G (p.(Met19Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PTCD3 ## Count = 8 "{{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}}" "0000351394" "00017081" "10" "-562" "0" "-562" "0" "c.-562G>A" "r.(?)" "p.(=)" "" "0000608140" "00017081" "30" "-519" "0" "-519" "0" "c.-519G>A" "r.(?)" "p.(=)" "" "0000933480" "00017081" "90" "415" "-2" "415" "-2" "c.415-2A>G" "r.415_538del" "p.Cys139GlufsTer71" "6i" "0000933481" "00017081" "90" "1746" "0" "1747" "0" "c.1746_1747dup" "r.1746_1747dup" "p.Phe583Serfs*3" "" "0000947976" "00017081" "30" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Val70Ile)" "" "0000947977" "00017081" "30" "1452" "8" "1452" "8" "c.1452+8G>A" "r.(=)" "p.(=)" "" "0000993064" "00017081" "50" "743" "0" "743" "0" "c.743T>A" "r.(?)" "p.(Phe248Tyr)" "" "0001050720" "00017081" "30" "-526" "0" "-526" "0" "c.-526T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000437981" "0000933480" "0000437981" "0000933481"