### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LMNB2) # 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}}" "LMNB2" "lamin B2" "19" "p13.3" "unknown" "NC_000019.9" "UD_134408465214" "" "https://www.LOVD.nl/LMNB2" "" "1" "6638" "84823" "150341" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-04-17 19:21:35" "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}}" "00011447" "LMNB2" "lamin B2" "001" "NM_032737.3" "" "NP_116126.3" "" "" "" "-35" "4609" "1863" "2456966" "2428163" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "02783" "APLD" "lipodystrophy, partial, acquired, susceptibility to" "AD" "608709" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-04-17 19:23:41" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "06406" "EPM9" "epilepsy, progressive myoclonic, type 9" "AR" "616540" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2025-04-17 19:22:48" "07163" "MCPH27" "microcephaly, type 27, primary, autosomal dominant" "AD" "619180" "" "" "" "00006" "2025-04-17 19:24:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "LMNB2" "02783" "LMNB2" "06406" "LMNB2" "07163" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00324284" "" "" "" "1" "" "03388" "" "" "F" "yes" "Iran" "" "" "no" "none" "" "LMNB2 patient" "00449812" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00465222" "" "" "" "2" "" "00006" "{PMID:Desgrouas 2025:40011009}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "yes" "France" "00y00m01d" "0" "" "" "" "FamPat1" "00465223" "" "" "00465222" "1" "" "00006" "{PMID:Desgrouas 2025:40011009}" "sib" "F" "yes" "France" "00y00m00d" "0" "" "" "" "FamPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00324284" "04270" "00449812" "05421" "00465222" "00198" "00465223" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02783, 04270, 05421, 06406, 07163 ## Count = 4 "{{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}}" "0000242854" "04270" "00324284" "03388" "Familial, autosomal recessive" "01y?" "HP:0002123\r\nHP:0002123\r\nHP:0002123" "?" "01y?" "HP:0002123 HP:0002123 HP:0002123" "LMNB2" "" "" "" "" "Progressive Myoclonus Epilepsy" "" "" "0000338958" "05421" "00449812" "03544" "Isolated (sporadic)" "" "HP:0000253, HP:0000271, HP:0001363, HP:0001249" "" "" "" "" "" "" "" "" "MCPH27" "craniosynostosis" "" "0000350758" "00198" "00465222" "00006" "Familial, autosomal recessive" "00y00m01d" "see paper; ..., 22wg-fetal growth retardation, severe microcephaly (−6ZS), ponto-cerebellar hypoplasia; birth 39wg, weight lower normal range (1860 g), 30 min-deceased; hypertrichosis, facial dysmorphism (low-set ears, hypertelorism, macrostomia, retromicrognathia; multiple joint contractures, restricted limb movements, lower limbs remained permanently in hyperextension; no fetal autopsy" "" "" "" "" "" "" "" "" "" "fetal growth retardation, severe microcephaly, ponto-cerebellar hypoplasia" "" "0000350759" "00198" "00465223" "00006" "Familial, autosomal recessive" "00y00m00d" "see paper; ..., 13wg-antenatal ultrasound microcephaly, lower limb in hyperextension; birth 37wg, weight 1760 g, microcephaly (OFC 24.5 cm), incomplete Pierre Robin sequence (mandibular hypoplasia, glossoptosis, upper airway obstruction without cleft palate), clubfoot, camptodactylia, pulmonary hypoplasia; deceased minutes after birth, limbs malformation, severe microcephaly, dysmorphic features face (broad nasal root, flat face, deep crease philtrum, long thin upper lip, large ears), brain impairment cortical development, absence of layer organisation, deep columns of defective migrating cells" "" "" "" "" "" "" "" "" "" "fetal anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000325474" "00324284" "1" "03388" "03388" "2020-12-04 07:22:03" "" "" "microscope;PCR;SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000451407" "00449812" "1" "03544" "03544" "2024-05-16 07:06:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000466872" "00465222" "1" "00006" "00006" "2025-04-17 19:36:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466873" "00465223" "1" "00006" "00006" "2025-04-17 19:55:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000325474" "LMNB2" ## 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}}" "0000326053" "0" "50" "19" "2426054" "2426054" "subst" "0.000249174" "01804" "TIMM13_000001" "g.2426054A>G" "" "" "" "TMPRSS9(NM_182973.1):c.3148A>G (p.(Arg1050Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2426056A>G" "" "VUS" "" "0000708481" "3" "70" "19" "2438459" "2438459" "subst" "0" "03388" "LMNB2_000001" "g.2438459G>A" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000894903" "0" "30" "19" "2438529" "2438529" "subst" "0.00135172" "02325" "LMNB2_000002" "g.2438529G>A" "" "" "" "LMNB2(NM_032737.4):c.402C>T (p.S134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951263" "0" "50" "19" "2431810" "2431810" "subst" "0.000138679" "02325" "LMNB2_000003" "g.2431810G>A" "" "" "" "LMNB2(NM_032737.4):c.1681C>T (p.R561C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985278" "0" "90" "19" "2434303" "2434303" "subst" "0" "03544" "LMNB2_000004" "g.2434303C>T" "" "" "" "" "" "De novo" "-" "rs1971791380" "" "" "" "g.2434305C>T" "{CV:997434}" "pathogenic" "ACMG" "0001004581" "0" "50" "19" "2438274" "2438274" "subst" "0" "01804" "LMNB2_000005" "g.2438274G>A" "" "" "" "LMNB2(NM_032737.3):c.571C>T (p.(Arg191Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004582" "0" "30" "19" "2456709" "2456709" "subst" "0" "01804" "LMNB2_000006" "g.2456709G>C" "" "" "" "LMNB2(NM_032737.3):c.223C>G (p.(Leu75Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030868" "3" "90" "19" "2438267" "2438268" "del" "0" "00006" "LMNB2_000007" "g.2438267_2438268del" "" "{PMID:Desgrouas 2025:40011009}" "" "" "ACMG PP1, PS3, PM2, PVS1" "Germline" "yes" "" "0" "" "" "g.2438269_2438270del" "VCV003366973.1" "likely pathogenic (recessive)" "ACMG" "0001030874" "3" "90" "19" "2438267" "2438268" "del" "0" "00006" "LMNB2_000007" "g.2438267_2438268del" "" "{PMID:Desgrouas 2025:40011009}" "" "" "ACMG PP1, PS3, PM2, PVS1" "Germline" "yes" "" "0" "" "" "g.2438269_2438270del" "VCV003366973.1" "likely pathogenic (recessive)" "ACMG" "0001042834" "0" "50" "19" "2427757" "2427757" "subst" "0" "01804" "LMNB2_000008" "g.2427757G>A" "" "" "" "LMNB2(NM_032737.4):c.*3152C>T" "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 LMNB2 ## Count = 10 "{{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}}" "0000326053" "00011447" "50" "6718" "0" "6718" "0" "c.*4855T>C" "r.(=)" "p.(=)" "" "0000708481" "00011447" "70" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000894903" "00011447" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Ser134=)" "" "0000951263" "00011447" "50" "1681" "0" "1681" "0" "c.1681C>T" "r.(?)" "p.(Arg561Cys)" "" "0000985278" "00011447" "90" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Glu398Lys)" "7" "0001004581" "00011447" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(His191Tyr)" "" "0001004582" "00011447" "30" "223" "0" "223" "0" "c.223C>G" "r.(?)" "p.(Leu75Val)" "" "0001030868" "00011447" "90" "578" "0" "579" "0" "c.578_579del" "r.(?)" "p.(Val193GlyfsTer101)" "" "0001030874" "00011447" "90" "578" "0" "579" "0" "c.578_579del" "r.(?)" "p.(Val193GlyfsTer101)" "" "0001042834" "00011447" "50" "5015" "0" "5015" "0" "c.*3152C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000325474" "0000708481" "0000451407" "0000985278" "0000466872" "0001030868" "0000466873" "0001030874"