### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJB4) # 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}}" "DNAJB4" "DnaJ (Hsp40) homolog, subfamily B, member 4" "1" "p31.1" "unknown" "NC_000001.10" "UD_132319105794" "" "https://www.LOVD.nl/DNAJB4" "" "1" "14886" "11080" "611327" "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/DNAJB4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-04-15 12:21:58" "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}}" "00006538" "DNAJB4" "DnaJ (Hsp40) homolog, subfamily B, member 4" "001" "NM_007034.3" "" "NP_008965.2" "" "" "" "-159" "2081" "1014" "78470636" "78482998" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00427" "MFM1;LGMD1D" "myopathy, myofibrillar, type 1 (MFM-1, limb-girdle muscular dystrophy 1D (LGMD-1D)" "AD;AR" "601419" "" "" "" "00006" "2014-06-20 20:36:17" "00006" "2021-12-10 21:51:32" "05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAJB4" "05106" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00412595" "" "" "" "6" "" "04344" "{PMID:Inoue 2022:36512060}, {DOI:Inoue 2022:10.1007/s00401-022-02530-4}" "3-generation family, 6 affected (2F, 4M)" "F" "" "Japan" "" "0" "" "" "" "FamPatII5" "00423221" "" "" "" "1" "" "00006" "{PMID:Weihl 2022:36264506}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Spain" "" "0" "" "" "" "FamAPatII1" "00423222" "" "" "" "1" "" "00006" "{PMID:Weihl 2022:36264506}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Spain" "" "0" "" "" "" "FamBPatII1" "00423223" "" "" "" "2" "" "00006" "{PMID:Weihl 2022:36264506}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamCPatII3" "00423224" "" "" "00423223" "1" "" "00006" "{PMID:Weihl 2022:36264506}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "FamCPatII5" "00426177" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "yes" "Oman" "" "0" "" "" "" "10SN8700" "00448687" "" "" "" "1" "" "03524" "" "" "" "yes" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00412595" "05106" "00423221" "00244" "00423222" "00244" "00423223" "00244" "00423224" "00244" "00426177" "00139" "00448687" "00427" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00244, 00427, 05106 ## Count = 6 "{{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}}" "0000314425" "00244" "00423221" "00006" "Familial, autosomal recessive" "33y" "diaphragmatic weakness with dyspnea; rigid spine; onset respiratory failure and syncope preceeded by symptoms of nocturnal hypoventilation few weeks before onset; dyspnea, patient on non-invasive respiratory support; normal muscle strength, only diaphragmatic weakness; normal gait; normal motor development; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 500-700 u/l" "28y" "" "respiratory failure and syncope preceeded by symptoms of nocturnal hypoventilation few weeks before onset" "" "" "" "" "" "myopathy" "0000314426" "00244" "00423222" "00006" "Familial, autosomal recessive" "63y" "diaphragmatic weakness with dyspnea; onset respiratory failure with respiratory arrest; dyspnea, patient on non-invasived respiratory support; normal muscle strength, only diaphragmatic weakness; normal gait; normal motor development; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; hypertorophic cardiomyopathy; no GI involvement; CK normal" "45y" "" "respiratory failure with respiratory arrest" "" "" "" "" "" "myopathy" "0000314427" "00244" "00423223" "00006" "Familial, autosomal recessive" "08y" "11y-deceased; rigid spine muscular dystrophy; onset difficult in bending or turning head sideways in addition to spine rigidity; respiratory failure and death at age of 11 yrs; normal muscle strength but with limited chest expansion and weak diaphragm muscles; normal gait but with rigid spine upto cervical region; no delay of motor milestones; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 350-400 u/l" "01y" "" "difficult in bending or turning head sideways in addition to spine rigidity" "" "" "" "" "" "myopathy" "0000314428" "00244" "00423224" "00006" "Familial, autosomal recessive" "06y" "rigid spine muscular dystrophy; onset difficult in bending or turning head sideways in addition to spine rigidity; respiratory failure and is currently with tracheostomy and ventilator dependent at night and most of the day time; normal muscle strength but with limited chest expansion and weak diaphragm muscles; normal gait but with rigid spine upto cervical region; no delay of motor milestones; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 350-400 u/l" "01y" "" "difficult in bending or turning head sideways in addition to spine rigidity" "" "" "" "" "" "myopathy" "0000317327" "00139" "00426177" "00006" "Familial, autosomal recessive" "6y" "IUGR, recurrent pneumonia (lipoid), ventilator-dependent, inguinal hernia, thin corpus callosum and mild to moderate brain atrophy" "" "" "" "" "" "" "" "" "intellectual disability" "0000319213" "05106" "00412595" "00006" "Familial, autosomal dominant" "" "see paper; ..., raised serum creatine kinase level (646–1285 U/mL); childhood motor development normal; 30-50y-asymmetric thumb/grip weakness, atrophy thenar/hypothenar muscles and finger contractures; inability to stand on tiptoes, weakness/atrophy distal leg muscles; 60y-70y-asymmetric involvement proximal muscles, respiratory insufficiency, scoliosis, loss of ambulation" "" "" "" "" "" "" "" "" "distal myopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000413864" "00412595" "1" "04344" "04344" "2022-07-01 16:47:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000424531" "00423221" "1" "00006" "00006" "2022-11-11 16:45:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, 38-Mb targeted Illumina exome capture" "0000424532" "00423222" "1" "00006" "00006" "2022-11-11 16:50:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000424533" "00423223" "1" "00006" "00006" "2022-11-11 16:55:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000424534" "00423224" "1" "00006" "00006" "2022-11-11 16:58:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427497" "00426177" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000450278" "00448687" "1" "03524" "03524" "2024-04-11 18:17:19" "" "" "SEQ-NG" "DNA" "" "" ## 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}}" "0000871428" "11" "90" "1" "78478793" "78478793" "subst" "0" "04344" "DNAJB4_000001" "g.78478793T>A" "" "{PMID:Inoue 2022:36512060}, {DOI:Inoue 2022:10.1007/s00401-022-02530-4}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78013109T>A" "" "pathogenic (dominant)" "ACMG" "0000900597" "3" "90" "1" "78481773" "78481773" "subst" "0" "00006" "DNAJB4_000002" "g.78481773A>T" "" "{PMID:Weihl 2022:36264506}" "" "" "" "Germline" "" "" "0" "" "" "g.78016089A>T" "" "pathogenic (recessive)" "" "0000900598" "3" "90" "1" "78481702" "78481702" "subst" "0" "00006" "DNAJB4_000003" "g.78481702T>C" "" "{PMID:Weihl 2022:36264506}" "" "" "" "Germline" "" "" "0" "" "" "g.78016018T>C" "" "pathogenic (recessive)" "" "0000900599" "3" "90" "1" "78470868" "78470868" "subst" "0" "00006" "DNAJB4_000004" "g.78470868G>A" "" "{PMID:Weihl 2022:36264506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78005184G>A" "" "pathogenic (recessive)" "" "0000900600" "3" "90" "1" "78470868" "78470868" "subst" "0" "00006" "DNAJB4_000004" "g.78470868G>A" "" "{PMID:Weihl 2022:36264506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78005184G>A" "" "pathogenic (recessive)" "" "0000904857" "3" "70" "1" "78470975" "78470975" "subst" "0" "00006" "DNAJB4_000005" "g.78470975A>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "reported as candidate disease gene" "Germline" "" "" "0" "" "" "g.78005291A>G" "" "VUS" "" "0000972252" "3" "70" "1" "78470795" "78481931" "del" "0" "03524" "DNAJB4_000006" "g.(?_78470795)_(78481931_?)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.(?)78005111)_(78016247_?)del" "" "likely pathogenic (recessive)" "" "0001032191" "0" "50" "1" "78458532" "78458532" "subst" "0" "01804" "DNAJB4_000007" "g.78458532C>T" "" "" "" "DNAJB4(NM_001317100.2):c.73C>T (p.(Arg25*))" "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 DNAJB4 ## 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}}" "0000871428" "00006538" "90" "270" "0" "270" "0" "c.270T>A" "r.(?)" "p.(Phe90Leu)" "" "0000900597" "00006538" "90" "856" "0" "856" "0" "c.856A>T" "r.(?)" "p.(Lys286*)" "" "0000900598" "00006538" "90" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Leu262Ser)" "" "0000900599" "00006538" "90" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25Gln)" "" "0000900600" "00006538" "90" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25Gln)" "" "0000904857" "00006538" "70" "181" "0" "181" "0" "c.181A>G" "r.(?)" "p.(Arg61Gly)" "" "0000972252" "00006538" "70" "1" "0" "1014" "0" "c.(?_1)_(1014_?)del" "r.?" "p.?" "_1_3_" "0001032191" "00006538" "50" "-12263" "0" "-12263" "0" "c.-12263C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000413864" "0000871428" "0000424531" "0000900597" "0000424532" "0000900598" "0000424533" "0000900599" "0000424534" "0000900600" "0000427497" "0000904857" "0000450278" "0000972252"