### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PMPCB) # 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}}" "PMPCB" "peptidase (mitochondrial processing) beta" "7" "q22.1" "unknown" "NC_000007.13" "UD_132612376946" "" "https://www.LOVD.nl/PMPCB" "" "1" "9119" "9512" "603131" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-23 21:51:03" "00000" "2025-05-05 21:14:00" ## 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}}" "00016415" "PMPCB" "peptidase (mitochondrial processing) beta" "001" "NM_004279.2" "" "NP_004270.2" "" "" "" "-34" "3885" "1470" "102937873" "102955133" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06753" "MMDS6" "mitochondrial dysfunctions, multiple, syndrome, type 6" "AR" "617954" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2024-11-25 10:06:53" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PMPCB" "06753" ## 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}}" "00155714" "" "" "" "1" "" "00006" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "FamA" "00155717" "" "" "" "1" "" "00006" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "Europe, north" "FamB" "00155718" "" "" "" "1" "" "00006" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Australia" "" "0" "" "" "Italy" "FamC" "00155719" "" "" "" "2" "" "00006" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "yes" "Germany" "" "0" "" "" "Kurdish-Iraqi" "FamD" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00155714" "00198" "00155717" "00198" "00155718" "00198" "00155719" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06753 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000128097" "00198" "00155714" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., neurodegeneration and cerebellar atrophy" "00y06m" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000128099" "00198" "00155717" "00006" "Familial, autosomal recessive" "" "see paper; ..., neurodegeneration and cerebellar atrophy" "01y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000128100" "00198" "00155718" "00006" "Familial, autosomal recessive" "" "see paper; ..., neurodegeneration and cerebellar atrophy" "00y10m" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000128101" "00198" "00155719" "00006" "Familial, autosomal recessive" "" "see paper; ..., neurodegeneration and cerebellar atrophy" "" "" "" "" "" "" "" "" "" "neurodegeneration" "" ## 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}}" "0000156579" "00155714" "1" "00006" "00006" "2018-03-23 22:00:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000156581" "00155717" "1" "00006" "00006" "2018-03-24 08:28:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000156582" "00155718" "1" "00006" "00006" "2018-03-24 08:31:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000156583" "00155719" "1" "00006" "00006" "2018-03-24 08:36:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000156579" "PMPCB" "0000156581" "PMPCB" "0000156582" "PMPCB" "0000156583" "PMPCB" ## 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 = 11 "{{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}}" "0000359610" "1" "90" "7" "102944354" "102944354" "subst" "2.43805E-5" "00006" "PMPCB_000001" "g.102944354C>T" "" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "" "" "" "Germline" "" "" "0" "" "" "g.103303907C>T" "" "pathogenic" "" "0000359611" "2" "90" "7" "102944432" "102944432" "subst" "2.4374E-5" "00006" "PMPCB_000002" "g.102944432G>C" "" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "" "" "" "Germline" "" "" "0" "" "" "g.103303985G>C" "" "pathogenic" "" "0000359613" "1" "90" "7" "102944354" "102944354" "subst" "2.43805E-5" "00006" "PMPCB_000001" "g.102944354C>T" "" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "" "" "" "Germline" "" "" "0" "" "" "g.103303907C>T" "" "pathogenic" "" "0000359614" "2" "90" "7" "102944432" "102944432" "subst" "2.4374E-5" "00006" "PMPCB_000002" "g.102944432G>C" "" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "" "" "" "Germline" "" "" "0" "" "" "g.103303985G>C" "" "pathogenic" "" "0000359615" "1" "90" "7" "102944355" "102944355" "subst" "4.87583E-5" "00006" "PMPCB_000003" "g.102944355G>A" "" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "" "" "" "Germline" "" "" "0" "" "" "g.103303908G>A" "" "pathogenic" "" "0000359616" "2" "90" "7" "102944361" "102944361" "subst" "4.06289E-6" "00006" "PMPCB_000004" "g.102944361T>G" "" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "" "" "" "Germline" "" "" "0" "" "" "g.103303914T>G" "" "pathogenic" "" "0000359617" "3" "90" "7" "102952279" "102952279" "subst" "4.0701E-6" "00006" "PMPCB_000005" "g.102952279T>C" "" "{DOI:Vögtle 2018:10.1016/j.ajhg.2018.02.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.103311832T>C" "" "pathogenic" "" "0000721156" "0" "50" "7" "102952524" "102952524" "subst" "2.03457E-5" "01943" "DNAJC2_000002" "g.102952524C>T" "" "" "" "PMPCB(NM_004279.3):c.1351C>T (p.R451*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977437" "0" "50" "7" "102940652" "102940652" "subst" "0.000118028" "01804" "DNAJC2_000004" "g.102940652C>A" "" "" "" "PMPCB(NM_004279.3):c.355C>A (p.(Leu119Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977438" "0" "50" "7" "102944316" "102944316" "subst" "0" "01804" "DNAJC2_000005" "g.102944316A>G" "" "" "" "PMPCB(NM_004279.3):c.485A>G (p.(Gln162Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036020" "0" "50" "7" "102944493" "102944493" "subst" "4.12994E-6" "01804" "DNAJC2_000007" "g.102944493T>A" "" "" "" "PMPCB(NM_004279.3):c.656+6T>A" "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 PMPCB ## Count = 11 "{{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}}" "0000359610" "00016415" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175Cys)" "" "0000359611" "00016415" "90" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Ala201Pro)" "" "0000359613" "00016415" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175Cys)" "" "0000359614" "00016415" "90" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Ala201Pro)" "" "0000359615" "00016415" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Arg175His)" "" "0000359616" "00016415" "90" "530" "0" "530" "0" "c.530T>G" "r.(?)" "p.(Val177Gly)" "" "0000359617" "00016415" "90" "1265" "0" "1265" "0" "c.1265T>C" "r.(?)" "p.(Ile422Thr)" "" "0000721156" "00016415" "50" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Arg451*)" "" "0000977437" "00016415" "50" "355" "0" "355" "0" "c.355C>A" "r.(?)" "p.(Leu119Met)" "" "0000977438" "00016415" "50" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Gln162Arg)" "" "0001036020" "00016415" "50" "656" "6" "656" "6" "c.656+6T>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000156579" "0000359610" "0000156579" "0000359611" "0000156581" "0000359613" "0000156581" "0000359614" "0000156582" "0000359615" "0000156582" "0000359616" "0000156583" "0000359617"