### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DPF2) # 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}}" "DPF2" "D4, zinc and double PHD fingers family 2" "11" "q13.1" "unknown" "NC_000011.9" "UD_136086643329" "" "https://www.LOVD.nl/DPF2" "" "1" "9964" "5977" "601671" "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/DPF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-25 09:07:52" "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}}" "00006646" "DPF2" "D4, zinc and double PHD fingers family 2" "001" "NM_006268.4" "" "NP_006259.1" "" "" "" "-133" "2397" "1176" "65101225" "65120451" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00156" "CSS" "Coffin-Siris syndrome (CSS)" "" "" "" "" "" "00001" "2013-06-27 15:22:30" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05794" "CSS7" "Coffin-Siris syndrome, type 7 (CSS7)" "AD" "618027" "" "" "" "00006" "2020-07-25 09:00:44" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DPF2" "00156" "DPF2" "05794" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00125791" "" "" "" "1" "" "00729" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "M" "no" "" "" "0" "" "" "" "" "00131901" "" "" "" "1" "" "02268" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "F" "no" "" "" "0" "" "" "" "" "00131902" "" "" "" "1" "" "02268" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "F" "yes" "" "" "0" "" "" "" "" "00131903" "" "" "" "1" "" "02268" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "M" "no" "" "" "0" "" "" "" "" "00131904" "" "" "" "1" "" "02268" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "M" "no" "" "" "0" "" "" "" "" "00131905" "" "" "" "1" "" "02268" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "F" "no" "" "" "0" "" "" "" "" "00131906" "" "" "" "1" "" "02268" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "F" "no" "" "" "0" "" "" "" "" "00131907" "" "" "" "1" "" "02268" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "M" "no" "" "" "0" "" "" "" "" "00228896" "" "" "" "1" "" "03241" "" "" "F" "no" "New Zealand" "" "" "" "" "" "" "00467742" "" "" "" "1" "" "00006" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "" "Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00125791" "00156" "00131901" "00156" "00131902" "00156" "00131903" "00156" "00131904" "00156" "00131905" "00156" "00131906" "00156" "00131907" "00156" "00228896" "00156" "00467742" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00156, 05611, 05794 ## Count = 2 "{{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}}" "0000099225" "00156" "00125791" "00729" "Isolated (sporadic)" "" "photophobia; generalized hypotonia; 6m-feeding problems 1-2y; no seizures (-HP:0001250); delayed growth (HP:00001510); hearing loss (HP:0000365); speech delayed (HP:0000750); mild-moderate intellectual disability; abnormal behaviour (HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); walk-17m; no ptosis (-HP:0000520); thick alae (HP:0009928); short philtrum (HP:0000322); wide mouth (HP:0000154); abnormality lower lip (HP:0000178); no cleft palate (-HP:0000175); ear abnormality (HP:0000598); no hypertrichosis (-HP:0000998); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); short 5th finger (HP:0009237); no absent 5th distal phalanx; multiple small nails; no delayed bone age (-HP:0003799);; no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242), no gastro-esophoegal reflux (-HP:0002020); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); small teeth (HP:0000691); recurrent infections (HP:0002719); MRI brain normal; no pyloric stenosis (-HP:0002021); no inguinal hernia (-HP:0000023); hypermetropia (HP:000540), no coloboma (-HP:0000589); normal eye movement (-HP:0000496)" "" "" "" "" "" "" "" "CSS" "" "0000352894" "05611" "00467742" "00006" "Unknown" "22y" "see paper; ..., moderate intellectual developmental disorder; 12m-walk; 9y-first words; speech sentences; autism spectrum disorder; attention-deficit/hyperactivity disorder, prior violent behavior; no seizures; narrow ears, mild synorphrys; normal extremities; no postnatal growth retardation; obesity during chilhood" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000127460" "00125791" "1" "00729" "00729" "2017-09-14 19:42:42" "" "" "SEQ-NG" "DNA" "" "" "0000132744" "00131901" "1" "02268" "02268" "2017-09-27 16:46:23" "" "" "SEQ-NG" "DNA" "" "" "0000132745" "00131902" "1" "02268" "02268" "2017-09-27 17:40:48" "" "" "SEQ-NG" "DNA" "" "" "0000132746" "00131903" "1" "02268" "02268" "2017-09-27 18:11:30" "" "" "SEQ-NG" "DNA" "" "" "0000132747" "00131904" "1" "02268" "02268" "2017-09-27 18:52:35" "" "" "SEQ-NG" "DNA" "" "" "0000132748" "00131905" "1" "02268" "02268" "2017-09-28 15:50:39" "" "" "SEQ-NG" "DNA" "" "" "0000132749" "00131906" "1" "02268" "02268" "2017-09-28 16:28:05" "00006" "2017-10-07 23:24:21" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000132750" "00131907" "1" "02268" "02268" "2017-09-28 17:09:56" "00006" "2018-01-15 17:56:38" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000229986" "00228896" "1" "03241" "03241" "2019-03-26 21:36:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469408" "00467742" "1" "00006" "00006" "2025-10-29 10:02:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000127460" "DPF2" "0000132744" "DPF2" "0000132745" "DPF2" "0000132746" "DPF2" "0000132747" "DPF2" "0000132748" "DPF2" "0000132749" "DPF2" "0000132750" "DPF2" ## 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 = 22 "{{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}}" "0000216566" "0" "90" "11" "65113452" "65113452" "subst" "0" "02268" "DPF2_000001" "g.65113452G>T" "" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.65345981G>T" "" "pathogenic" "ACMG" "0000221920" "0" "90" "11" "65113803" "65113803" "subst" "0" "02268" "DPF2_000003" "g.65113803C>G" "" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.65346332C>G" "" "pathogenic" "ACMG" "0000221921" "0" "90" "11" "65116352" "65116352" "subst" "0" "02268" "DPF2_000005" "g.65116352G>A" "" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.65348881G>A" "" "pathogenic" "ACMG" "0000221922" "0" "70" "11" "65116340" "65116340" "subst" "0" "02268" "DPF2_000004" "g.65116340A>G" "" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.65348869A>G" "" "likely pathogenic" "ACMG" "0000221923" "0" "70" "11" "65119159" "65119159" "subst" "0" "02268" "DPF2_000008" "g.65119159T>C" "" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.65351688T>C" "" "likely pathogenic" "ACMG" "0000221929" "0" "70" "11" "65113530" "65113530" "subst" "0" "02268" "DPF2_000002" "g.65113530G>T" "" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.65346059G>T" "" "likely pathogenic" "ACMG" "0000221930" "0" "90" "11" "65116403" "65116403" "subst" "0" "02268" "DPF2_000007" "g.65116403G>A" "" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.65348932G>A" "" "pathogenic" "ACMG" "0000221931" "0" "90" "11" "65116369" "65116376" "del" "0" "02268" "DPF2_000006" "g.65116369_65116376del" "" "{DOI:Vasileiou 2018:10.1016/j.ajhg.2018.01.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.65348898_65348905del" "" "pathogenic" "ACMG" "0000471333" "0" "90" "11" "65116369" "65116369" "subst" "0" "03241" "DPF2_000009" "g.65116369T>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.65348898T>G" "" "likely pathogenic (dominant)" "" "0000544962" "0" "50" "11" "65124211" "65124211" "subst" "2.4655E-5" "01943" "DPF2_000010" "g.65124211G>A" "" "" "" "TIGD3(NM_145719.3):c.932G>A (p.R311Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65356740G>A" "" "VUS" "" "0000613543" "0" "50" "11" "65108493" "65108493" "subst" "0" "01943" "DPF2_000011" "g.65108493C>T" "" "" "" "DPF2(NM_001330308.1):c.250C>T (p.R84*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65341022C>T" "" "VUS" "" "0000613544" "0" "30" "11" "65108547" "65108547" "subst" "0.0100568" "01804" "DPF2_000012" "g.65108547A>G" "" "" "" "DPF2(NM_001330308.1):c.301+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65341076A>G" "" "likely benign" "" "0000656845" "0" "50" "11" "65111289" "65111289" "subst" "0" "02325" "DPF2_000013" "g.65111289G>C" "" "" "" "DPF2(NM_001330308.2):c.539G>C (p.R180P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65343818G>C" "" "VUS" "" "0000656846" "0" "30" "11" "65113830" "65113830" "subst" "2.04717E-5" "02325" "DPF2_000014" "g.65113830C>T" "" "" "" "DPF2(NM_001330308.2):c.1059C>T (p.D353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65346359C>T" "" "likely benign" "" "0000862631" "0" "50" "11" "65108551" "65108551" "subst" "1.62689E-5" "01804" "DPF2_000015" "g.65108551C>T" "" "" "" "DPF2(NM_001330308.1):c.301+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890058" "0" "50" "11" "65108969" "65108969" "subst" "2.03115E-5" "02325" "DPF2_000016" "g.65108969C>T" "" "" "" "DPF2(NM_006268.5):c.401C>T (p.P134L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979733" "0" "30" "11" "65115942" "65115942" "subst" "0" "01804" "DPF2_000017" "g.65115942C>T" "" "" "" "DPF2(NM_006268.5):c.1018-379C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999254" "0" "30" "11" "65108965" "65108965" "subst" "1.62473E-5" "01804" "DPF2_000018" "g.65108965G>A" "" "" "" "DPF2(NM_006268.4):c.397G>A (p.(Ala133Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038593" "0" "30" "11" "65111264" "65111266" "dup" "0" "01804" "DPF2_000019" "g.65111264_65111266dup" "" "" "" "DPF2(NM_006268.5):c.514_516dup (p.(Tyr172dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038594" "0" "50" "11" "65113245" "65113245" "subst" "0" "01804" "DPF2_000020" "g.65113245C>T" "" "" "" "DPF2(NM_006268.5):c.746C>T (p.(Pro249Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049702" "0" "70" "11" "65113768" "65113768" "subst" "0" "00006" "DPF2_000021" "g.65113768A>G" "" "{PMID:Bou-Rouphael 2025:40987292}, {DOI:Bou-Rouphael 2025:10.1016/j.ajhg.2025.09.001}" "" "" "variant not maternally inheited" "Germline/De novo (untested)" "" "" "0" "" "" "g.65346297A>G" "" "VUS" "" "0001053927" "0" "50" "11" "65113238" "65113238" "subst" "0" "01804" "DPF2_000022" "g.65113238C>T" "" "" "" "DPF2(NM_006268.5):c.739C>T (p.(Pro247Ser))" "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 DPF2 ## Count = 22 "{{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}}" "0000216566" "00006646" "90" "827" "0" "827" "0" "c.827G>T" "r.(?)" "p.(Cys276Phe)" "8" "0000221920" "00006646" "90" "990" "0" "990" "0" "c.990C>G" "r.(?)" "p.(Cys330Trp)" "9" "0000221921" "00006646" "90" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Arg350His)" "10" "0000221922" "00006646" "70" "1037" "0" "1037" "0" "c.1037A>G" "r.(?)" "p.(Asp346Gly)" "10" "0000221923" "00006646" "70" "1105" "0" "1105" "0" "c.1105T>C" "r.(?)" "p.(Trp369Arg)" "11" "0000221929" "00006646" "70" "904" "1" "904" "1" "c.904+1G>T" "r.spl?" "p.?" "8i" "0000221930" "00006646" "90" "1099" "1" "1099" "1" "c.1099+1G>A" "r.1018_1099del" "p.Asp340Glufs*12" "10i" "0000221931" "00006646" "90" "1066" "0" "1073" "0" "c.1066_1073del" "r.1066_1073del" "p.Cys356Profs*5" "10" "0000471333" "00006646" "90" "1066" "0" "1066" "0" "c.1066T>G" "r.(?)" "p.(Cys356Gly)" "10" "0000544962" "00006646" "50" "6157" "0" "6157" "0" "c.*4981G>A" "r.(=)" "p.(=)" "" "0000613543" "00006646" "50" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Ter)" "" "0000613544" "00006646" "30" "301" "3" "301" "3" "c.301+3A>G" "r.spl?" "p.?" "" "0000656845" "00006646" "50" "539" "0" "539" "0" "c.539G>C" "r.(?)" "p.(Arg180Pro)" "" "0000656846" "00006646" "30" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Asp339=)" "" "0000862631" "00006646" "50" "301" "7" "301" "7" "c.301+7C>T" "r.(=)" "p.(=)" "" "0000890058" "00006646" "50" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "" "0000979733" "00006646" "30" "1018" "-379" "1018" "-379" "c.1018-379C>T" "r.(=)" "p.(=)" "" "0000999254" "00006646" "30" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" "" "0001038593" "00006646" "30" "514" "0" "516" "0" "c.514_516dup" "r.(?)" "p.(Tyr172dup)" "" "0001038594" "00006646" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Pro249Leu)" "" "0001049702" "00006646" "70" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Thr319Ala)" "" "0001053927" "00006646" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Pro247Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000127460" "0000216566" "0000132744" "0000221920" "0000132745" "0000221921" "0000132746" "0000221922" "0000132747" "0000221923" "0000132748" "0000221929" "0000132749" "0000221930" "0000132750" "0000221931" "0000229986" "0000471333" "0000469408" "0001049702"