### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DLX5) # 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}}" "DLX5" "distal-less homeobox 5" "7" "q21.3" "unknown" "NG_009220.1" "UD_132118816581" "" "https://www.LOVD.nl/DLX5" "" "1" "2918" "1749" "600028" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DLX5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-28 17:06:53" "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}}" "00006487" "DLX5" "distal-less homeobox 5" "001" "NM_005221.5" "" "NP_005212.1" "" "" "" "-208" "1216" "870" "96654143" "96649702" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01746" "SHFM1D" "split-hand/foot malformation, type 1 with sensorineural hearing loss (SHFM-1D)" "AR" "220600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06732" "SHFM1" "Split-hand/foot malformation 1" "" "183600" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DLX5" "01746" "DLX5" "06732" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00231000" "" "" "" "1" "" "01962" "" "" "M" "no" "Japan" "" "0" "" "" "" "30-II-1" "00331400" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "11DG0832, 11DG0833" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00231000" "00198" "00331400" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01746, 05517, 06732 ## Count = 2 "{{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}}" "0000173483" "00198" "00231000" "01962" "Isolated (sporadic)" "" "split hand, split foot" "" "" "" "" "" "" "" "" "" "split-hand/foot malformation" "" "0000249592" "05517" "00331400" "00000" "Familial, autosomal recessive" "" "Ectrodactyly, Abnormal nails, Hearing impairment" "" "" "" "" "" "" "" "" "Ectrodactyly with/without other manifestations" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232096" "00231000" "1" "01962" "01962" "2019-04-22 17:53:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000332619" "00331400" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000232096" "DLX5" "0000332619" "DLX5" ## 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 = 14 "{{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}}" "0000331709" "0" "50" "7" "96650226" "96650226" "subst" "0.000142275" "01804" "DLX5_000001" "g.96650226C>T" "" "" "" "DLX5(NM_005221.6):c.692G>A (p.(Arg231His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97020914C>T" "" "VUS" "" "0000331710" "0" "50" "7" "96650311" "96650311" "subst" "0" "01804" "DLX5_000002" "g.96650311G>A" "" "" "" "DLX5(NM_005221.5):c.607C>T (p.(Pro203Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97020999G>A" "" "VUS" "" "0000331711" "0" "50" "7" "96653913" "96653913" "subst" "2.49767E-5" "01804" "DLX5_000003" "g.96653913C>G" "" "" "" "DLX5(NM_005221.5):c.23G>C (p.(Arg8Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97024601C>G" "" "VUS" "" "0000474411" "0" "90" "7" "96650361" "96650361" "subst" "0" "01962" "DLX5_000004" "g.96650361T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.97021049T>C" "" "pathogenic (dominant)" "" "0000533148" "0" "30" "7" "96650216" "96650216" "subst" "0.0100716" "01804" "DLX5_000005" "g.96650216G>T" "" "" "" "DLX5(NM_005221.5):c.702C>A (p.(Ser234Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97020904G>T" "" "likely benign" "" "0000533149" "0" "50" "7" "96650310" "96650310" "subst" "1.62584E-5" "01804" "DLX5_000006" "g.96650310G>C" "" "" "" "DLX5(NM_005221.5):c.608C>G (p.(Pro203Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97020998G>C" "" "VUS" "" "0000729901" "3" "90" "7" "96651504" "96651504" "subst" "0" "00000" "DLX5_000007" "g.96651504T>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_005221.5:c.533A>C:p.(Gln178Pro)" "" "Germline" "" "" "0" "" "" "g.97022192T>G" "" "pathogenic (recessive)" "" "0000803315" "0" "30" "7" "96650387" "96650387" "subst" "0.00220407" "01943" "DLX5_000008" "g.96650387G>A" "" "" "" "DLX5(NM_005221.6):c.541-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860978" "0" "50" "7" "96650205" "96650205" "subst" "4.06412E-6" "01804" "DLX5_000009" "g.96650205T>G" "" "" "" "DLX5(NM_005221.5):c.713A>C (p.(His238Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929398" "0" "50" "7" "96651669" "96651669" "subst" "0" "01804" "DLX5_000010" "g.96651669G>A" "" "" "" "DLX5(NM_005221.5):c.368C>T (p.(Thr123Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977917" "0" "50" "7" "96653697" "96653697" "subst" "0.000154322" "01804" "DLX5_000011" "g.96653697A>G" "" "" "" "DLX5(NM_005221.6):c.239T>C (p.(Val80Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052740" "0" "50" "7" "96653635" "96653635" "subst" "4.06233E-6" "01804" "DLX5_000012" "g.96653635A>G" "" "" "" "DLX5(NM_005221.6):c.301T>C (p.(Tyr101His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052741" "0" "50" "7" "96653674" "96653674" "subst" "2.03049E-5" "01804" "DLX5_000013" "g.96653674G>A" "" "" "" "DLX5(NM_005221.6):c.262C>T (p.(Pro88Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052742" "0" "50" "7" "96653787" "96653787" "subst" "0" "01804" "DLX5_000014" "g.96653787G>T" "" "" "" "DLX5(NM_005221.6):c.149C>A (p.(Pro50His))" "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 DLX5 ## Count = 14 "{{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}}" "0000331709" "00006487" "50" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Arg231His)" "" "0000331710" "00006487" "50" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Pro203Ser)" "" "0000331711" "00006487" "50" "23" "0" "23" "0" "c.23G>C" "r.(?)" "p.(Arg8Thr)" "" "0000474411" "00006487" "90" "557" "0" "557" "0" "c.557A>G" "r.(?)" "p.(Gln186Arg)" "" "0000533148" "00006487" "30" "702" "0" "702" "0" "c.702C>A" "r.(?)" "p.(Ser234Arg)" "" "0000533149" "00006487" "50" "608" "0" "608" "0" "c.608C>G" "r.(?)" "p.(Pro203Arg)" "" "0000729901" "00006487" "90" "533" "0" "533" "0" "c.533A>C" "r.(?)" "p.(Gln178Pro)" "" "0000803315" "00006487" "30" "541" "-10" "541" "-10" "c.541-10C>T" "r.(=)" "p.(=)" "" "0000860978" "00006487" "50" "713" "0" "713" "0" "c.713A>C" "r.(?)" "p.(His238Pro)" "" "0000929398" "00006487" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Ile)" "" "0000977917" "00006487" "50" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Val80Ala)" "" "0001052740" "00006487" "50" "301" "0" "301" "0" "c.301T>C" "r.(?)" "p.(Tyr101His)" "" "0001052741" "00006487" "50" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Pro88Ser)" "" "0001052742" "00006487" "50" "149" "0" "149" "0" "c.149C>A" "r.(?)" "p.(Pro50His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000232096" "0000474411" "0000332619" "0000729901"