### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DENND5B) # 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}}" "DENND5B" "DENN/MADD domain containing 5B" "12" "p11.21" "unknown" "NC_000012.11" "UD_136020490295" "" "https://www.LOVD.nl/DENND5B" "" "1" "28338" "160518" "617279" "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/DENND5B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-30 09:27:41" "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}}" "00006328" "DENND5B" "DENN/MADD domain containing 5B" "001" "NM_144973.3" "" "NP_659410.3" "" "" "" "-186" "9205" "3825" "31743952" "31535157" "" "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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DENND5B" "05611" ## 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}}" "00436153" "" "" "" "1" "" "03565" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat1" "00436155" "" "" "" "1" "" "03565" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat3" "00436156" "" "" "" "1" "" "03565" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "Pat2" "00436157" "" "" "" "1" "" "03565" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat5" "00436158" "" "" "" "1" "" "03565" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat4" "00436159" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "DE_6" "00436160" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "DE_6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00436153" "00198" "00436155" "00198" "00436156" "00198" "00436157" "00198" "00436158" "00198" "00436159" "00198" "00436160" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 7 "{{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}}" "0000326334" "00198" "00436153" "03565" "Familial, autosomal dominant" "15y" "psychomotor delay; motor delay; no speech delay; intellectual disability; mild developmental delay; facial dysmorphism; macrocephaly; abnormal behavior; no autism spectrum disorder; attention deficit-hyperactivity disorder; no stereotyped movements; hypotonia; spastic diplegia; no dysarthria; sleep disorder; no epilepsy; 4y-febrile seizure, one episode; MRI brain white matter involvement, subcortical abnormalities, corpus callosum hypoplasia, no optic chiasm hypoplasia, ventricular enlargement, gyration defects" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000326336" "00198" "00436155" "03565" "Familial, autosomal dominant" "17y" "psychomotor delay; motor delay; speech delay; intellectual disability; severe developmental delay; facial dysmorphism; microcephaly; hypotonia; dysarthria; epilepsy; 1y-onset focal seizure; EEG focal discharges, slowing of background activity; MRI brain white matter involvement, subcortical abnormalities, no corpus callosum hypoplasia, optic chiasm hypoplasia, no ventricular enlargement, no gyration defects" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000326337" "00198" "00436156" "03565" "Familial, autosomal dominant" "12y" "psychomotor delay; motor delay; speech delay; no intellectual disability; mild developmental delay; no facial dysmorphism; macrocephaly; abnormal behavior; autism spectrum disorder; no attention deficit-hyperactivity disorder; stereotyped movements; no hypotonia; no spasticity; no dysarthria; no sleep disorder; no epilepsy; no seizures; EEG normal; MRI brain no white matter involvement, no subcortical abnormalities, no corpus callosum hypoplasia, no optic chiasm hypoplasia, no ventricular enlargement, gyration defects" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000326338" "00198" "00436157" "03565" "Familial, autosomal dominant" "15y" "psychomotor delay; motor delay; speech delay; intellectual disability; mild developmental delay; no facial dysmorphism; no macrocephaly; abnormal behavior; autism spectrum disorder; no attention deficit-hyperactivity disorder; stereotyped movements; hypotonia; no spasticity; no dysarthria; sleep disorder; epilepsy; 1y-onset multifocal seizures; EEG multifocal discharges, slowing of background activity; MRI brain white matter involvement, no subcortical abnormalities, corpus callosum hypoplasia, no optic chiasm hypoplasia, no ventricular enlargement, no gyration defects" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000326339" "00198" "00436158" "03565" "Familial, autosomal dominant" "04y" "psychomotor delay; motor delay; speech delay; moderate developmental delay; no facial dysmorphism; no abnormal behavior; no autism spectrum disorder; no attention deficit-hyperactivity disorder; no stereotyped movements; hypotonia; no spasticity; no dysarthria; no sleep disorder; no epilepsy; no seizures; EEG normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000326340" "00198" "00436159" "03565" "Familial, autosomal dominant" "" "Developmental delay/intellectual disability, abnormal behavior, seizures, brain abnormalities" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "Neurodevelopmental disorder" "" "0000326341" "00198" "00436160" "03565" "Familial, autosomal dominant" "" "Developmental delay/intellectual disability, abnormal behavior, seizures, brain abnormalities" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "Neurodevelopmental disorder" "" ## 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}}" "0000437636" "00436153" "1" "03565" "03565" "2023-08-29 16:53:15" "" "" "SEQ-NG" "DNA" "" "" "0000437638" "00436155" "1" "03565" "03565" "2023-08-29 17:00:42" "" "" "SEQ-NG" "DNA" "" "" "0000437639" "00436156" "1" "03565" "03565" "2023-08-29 17:02:29" "" "" "SEQ-NG" "DNA" "" "" "0000437640" "00436157" "1" "03565" "03565" "2023-08-29 17:04:03" "" "" "SEQ-NG" "DNA" "" "" "0000437641" "00436158" "1" "03565" "03565" "2023-08-29 17:05:44" "" "" "SEQ-NG" "DNA" "" "" "0000437642" "00436159" "1" "03565" "03565" "2023-08-29 17:07:19" "" "" "SEQ-NG" "DNA" "" "" "0000437643" "00436160" "1" "03565" "03565" "2023-08-29 17:09:06" "" "" "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 = 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}}" "0000547813" "0" "30" "12" "31562249" "31562249" "subst" "3.90263E-5" "01943" "DENND5B_000001" "g.31562249A>C" "" "" "" "DENND5B(NM_001308339.1):c.2856T>G (p.L952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31409315A>C" "" "likely benign" "" "0000547814" "0" "30" "12" "31605276" "31605276" "subst" "1.62464E-5" "01943" "DENND5B_000002" "g.31605276G>A" "" "" "" "DENND5B(NM_001308339.1):c.1332C>T (p.G444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31452342G>A" "" "likely benign" "" "0000862960" "0" "50" "12" "31600552" "31600552" "subst" "0" "01943" "DENND5B_000003" "g.31600552T>C" "" "" "" "DENND5B(NM_144973.4):c.1781A>G (p.D594G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000932979" "0" "90" "12" "31566497" "31566497" "subst" "0" "03565" "DENND5B_000005" "g.31566497G>A" "" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "" "" "" "De novo" "" "" "0" "" "" "g.31413563G>A" "" "pathogenic (dominant)" "" "0000932981" "0" "90" "12" "31568306" "31568306" "subst" "0" "03565" "DENND5B_000006" "g.31568306G>T" "" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "" "" "" "De novo" "" "" "0" "" "" "g.31415372G>T" "" "pathogenic (dominant)" "" "0000932982" "0" "90" "12" "31576602" "31576602" "subst" "0" "03565" "DENND5B_000007" "g.31576602G>A" "" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "" "" "" "De novo" "" "" "0" "" "" "g.31423668G>A" "" "pathogenic (dominant)" "" "0000932983" "0" "90" "12" "31577614" "31577614" "subst" "0" "03565" "DENND5B_000008" "g.31577614C>T" "" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "" "" "" "De novo" "" "" "0" "" "" "g.31424680C>T" "" "pathogenic (dominant)" "" "0000932984" "0" "90" "12" "31600657" "31600657" "subst" "0" "03565" "DENND5B_000009" "g.31600657G>A" "" "{DOI:Scala 2024:10.1016/j.ajhg.2024.02.001}" "" "" "" "De novo" "" "" "0" "" "" "g.31447723G>A" "" "pathogenic" "" "0000932985" "0" "90" "12" "31632718" "31632718" "subst" "0" "03565" "DENND5B_000010" "g.31632718G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31479784G>A" "" "pathogenic" "" "0000932986" "0" "90" "12" "31648741" "31648741" "subst" "0" "03565" "DENND5B_000004" "g.31648741T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31495807T>C" "" "pathogenic" "" "0001039191" "0" "30" "12" "31577498" "31577498" "subst" "2.84426E-5" "01804" "DENND5B_000011" "g.31577498T>C" "" "" "" "DENND5B(NM_144973.4):c.2362A>G (p.(Ile788Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039192" "0" "50" "12" "31613312" "31613312" "subst" "0" "01804" "DENND5B_000012" "g.31613312T>C" "" "" "" "DENND5B(NM_144973.4):c.908A>G (p.(Tyr303Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054271" "0" "50" "12" "31540715" "31540715" "subst" "8.19746E-6" "01804" "DENND5B_000013" "g.31540715C>T" "" "" "" "DENND5B(NM_144973.4):c.3647G>A (p.(Arg1216His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054272" "0" "30" "12" "31568386" "31568386" "subst" "0" "01804" "DENND5B_000014" "g.31568386T>G" "" "" "" "DENND5B(NM_144973.4):c.2471-4A>C" "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 DENND5B ## 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}}" "0000547813" "00006328" "30" "2751" "0" "2751" "0" "c.2751T>G" "r.(?)" "p.(Leu917=)" "" "0000547814" "00006328" "30" "1227" "0" "1227" "0" "c.1227C>T" "r.(?)" "p.(Gly409=)" "" "0000862960" "00006328" "50" "1781" "0" "1781" "0" "c.1781A>G" "r.(?)" "p.(Asp594Gly)" "" "0000932979" "00006328" "90" "2554" "0" "2554" "0" "c.2554C>T" "r.(?)" "p.(His852Tyr)" "" "0000932981" "00006328" "90" "2547" "0" "2547" "0" "c.2547C>A" "r.(?)" "p.(Asp849Glu)" "" "0000932982" "00006328" "90" "2399" "0" "2399" "0" "c.2399C>T" "r.(?)" "p.(Ser800Leu)" "" "0000932983" "00006328" "90" "2246" "0" "2246" "0" "c.2246G>A" "r.(?)" "p.(Arg749His)" "" "0000932984" "00006328" "90" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Ser559Leu)" "" "0000932985" "00006328" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Pro237Ser)" "" "0000932986" "00006328" "90" "237" "3" "237" "3" "c.237+3A>G" "r.spl?" "p.?" "" "0001039191" "00006328" "30" "2362" "0" "2362" "0" "c.2362A>G" "r.(?)" "p.(Ile788Val)" "" "0001039192" "00006328" "50" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Tyr303Cys)" "" "0001054271" "00006328" "50" "3647" "0" "3647" "0" "c.3647G>A" "r.(?)" "p.(Arg1216His)" "" "0001054272" "00006328" "30" "2471" "-4" "2471" "-4" "c.2471-4A>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000437636" "0000932979" "0000437638" "0000932981" "0000437639" "0000932982" "0000437640" "0000932983" "0000437641" "0000932984" "0000437642" "0000932985" "0000437643" "0000932986"