### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DGCR8) # 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}}" "DGCR8" "DiGeorge syndrome critical region gene 8" "22" "q11.2" "unknown" "NG_022931.2" "UD_132118997617" "" "https://www.LOVD.nl/DGCR8" "" "1" "2847" "54487" "609030" "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/DGCR8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-07 21:49:06" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00006360" "DGCR8" "transcript variant 2" "002" "NM_001190326.1" "" "NP_001177255.1" "" "" "" "-429" "3992" "2223" "20067755" "20099400" "" "0000-00-00 00:00:00" "" "" "00025808" "DGCR8" "DGCR8 microprocessor complex subunit, transcript variant 1" "001" "NM_022720.6" "" "NP_073557.3" "" "" "" "-429" "4091" "2322" "20067755" "20099400" "00006" "2023-02-07 21:44:10" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01048" "VCFS" "velocardiofacial syndrome" "AD" "192430" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-08-26 16:48:45" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DGCR8" "01048" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00050438" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050514" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050542" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050613" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00319920" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Pakistan" "" "0" "" "" "Punjabi" "PKMR30" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050438" "00198" "00050514" "00198" "00050542" "00198" "00050613" "00198" "00319920" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01048 ## Count = 5 "{{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}}" "0000037050" "00198" "00050438" "00006" "Unknown" "" "sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart" "" "" "" "" "" "" "" "" "" "" "" "0000037126" "00198" "00050514" "00006" "Isolated (sporadic)" "" "agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema" "" "" "" "" "" "" "" "" "" "" "" "0000037154" "00198" "00050542" "00006" "Isolated (sporadic)" "" "abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037225" "00198" "00050613" "00006" "Isolated (sporadic)" "" "specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000242022" "00139" "00319920" "00006" "Familial, autosomal recessive" "" "severe intellectual disability, speech delay, delayed milestones, auto mutilation IV:1: mild hypotonia, aggressive, dysplastic, large ear. IV:2: Epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050383" "00050438" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050459" "00050514" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050487" "00050542" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050558" "00050613" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000321101" "00319920" "1" "00006" "00006" "2020-11-10 17:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000321101" "DGCR8" "0000321101" "FNIP2" "0000321101" "GSTCD" "0000321101" "TOP3B" ## 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 = 10 "{{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}}" "0000079363" "0" "90" "22" "18889039" "21464119" "del" "0" "00006" "ARVCF_000002" "g.18889039_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079439" "0" "90" "22" "18839287" "21830562" "dup" "0" "00006" "ARVCF_000005" "g.18839287_21830562dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079467" "0" "90" "22" "19023163" "21464119" "del" "0" "00006" "ARVCF_000004" "g.19023163_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079538" "0" "90" "22" "18893563" "21464119" "del" "0" "00006" "ARVCF_000003" "g.18893563_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000328890" "0" "50" "22" "20104513" "20104531" "del" "0" "01804" "RANBP1_000001" "g.20104513_20104531del" "" "" "" "TRMT2A(NM_001257994.1):c.-82_-64del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20116990_20117008del" "" "VUS" "" "0000703886" "3" "70" "22" "20073866" "20073866" "subst" "4.06326E-6" "00006" "DGCR8_000001" "g.20073866G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.20086343G>A" "" "likely pathogenic" "" "0001005912" "0" "50" "22" "20067911" "20067911" "subst" "0" "01804" "DGCR8_000002" "g.20067911G>A" "" "" "" "DGCR8(NM_022720.6):c.-278+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005913" "0" "30" "22" "20102381" "20102381" "subst" "4.61834E-6" "01804" "DGCR8_000003" "g.20102381G>C" "" "" "" "TRMT2A(NM_022727.5):c.1024C>G (p.(Leu342Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005914" "0" "30" "22" "20103735" "20103735" "subst" "0.000342617" "01804" "DGCR8_000004" "g.20103735C>T" "" "" "" "TRMT2A(NM_022727.5):c.425G>A (p.(Arg142His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046803" "0" "30" "22" "20097585" "20097585" "subst" "0.000426359" "02325" "DGCR8_000005" "g.20097585C>T" "" "" "" "DGCR8(NM_022720.7):c.2276C>T (p.A759V)" "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 DGCR8 ## Count = 19 "{{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}}" "0000079363" "00025808" "90" "-1179145" "0" "1368810" "0" "c.-1179145_*1366488del" "r.0?" "p.0?" "" "0000079363" "00006360" "00" "-1179145" "0" "1368711" "0" "c.-1179145_*1366488del" "r.0?" "p.0?" "" "0000079439" "00025808" "90" "-1228897" "0" "1735253" "0" "c.-1228897_*1732931dup" "r.0?" "p.0?" "" "0000079439" "00006360" "00" "-1228897" "0" "1735154" "0" "c.-1228897_*1732931dup" "r.?" "p.?" "" "0000079467" "00025808" "90" "-1045021" "0" "1368810" "0" "c.-1045021_*1366488del" "r.0?" "p.0?" "" "0000079467" "00006360" "00" "-1045021" "0" "1368711" "0" "c.-1045021_*1366488del" "r.0?" "p.0?" "" "0000079538" "00025808" "90" "-1174621" "0" "1368810" "0" "c.-1174621_*1366488del" "r.0?" "p.0?" "" "0000079538" "00006360" "00" "-1174621" "0" "1368711" "0" "c.-1174621_*1366488del" "r.0?" "p.0?" "" "0000328890" "00025808" "50" "9204" "0" "9222" "0" "c.*6882_*6900del" "r.(=)" "p.(=)" "" "0000328890" "00006360" "50" "9105" "0" "9123" "0" "c.*6882_*6900del" "r.(=)" "p.(=)" "" "0000703886" "00006360" "70" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Ser127Asn)" "" "0001005912" "00025808" "50" "-278" "5" "-278" "5" "c.-278+5G>A" "r.spl?" "p.?" "" "0001005912" "00006360" "50" "-278" "5" "-278" "5" "c.-278+5G>A" "r.spl?" "p.?" "" "0001005913" "00025808" "30" "7072" "0" "7072" "0" "c.*4750G>C" "r.(=)" "p.(=)" "" "0001005913" "00006360" "30" "6973" "0" "6973" "0" "c.*4750G>C" "r.(=)" "p.(=)" "" "0001005914" "00025808" "30" "8426" "0" "8426" "0" "c.*6104C>T" "r.(=)" "p.(=)" "" "0001005914" "00006360" "30" "8327" "0" "8327" "0" "c.*6104C>T" "r.(=)" "p.(=)" "" "0001046803" "00025808" "30" "2276" "0" "2276" "0" "c.2276C>T" "r.(?)" "p.(Ala759Val)" "" "0001046803" "00006360" "30" "2177" "0" "2177" "0" "c.2177C>T" "r.(?)" "p.(Ala726Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050383" "0000079363" "0000050459" "0000079439" "0000050487" "0000079467" "0000050558" "0000079538" "0000321101" "0000703886"