### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNB2) # 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}}" "KCNB2" "potassium voltage-gated channel, Shab-related subfamily, member 2" "8" "q13.2" "unknown" "NC_000008.10" "UD_132586406906" "" "https://www.LOVD.nl/KCNB2" "" "1" "6232" "9312" "607738" "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" "2024-04-29 16:03:00" "00006" "2024-04-29 16:49:31" ## 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}}" "00010339" "KCNB2" "potassium voltage-gated channel, Shab-related subfamily, member 2" "001" "NM_004770.2" "" "NP_004761.2" "" "" "" "-588" "2994" "2736" "73449626" "73850584" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KCNB2" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00413831" "" "" "" "1" "" "03725" "{PMID:Zie 2022:36092865}" "" "M" "no" "China" "" "0" "" "" "" "patient" "00449658" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00449659" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00449660" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00449661" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00449662" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00449663" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00449664" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "family, patient and asymptomaticheterozygous carrier father" "M" "" "" "" "0" "" "" "" "Pat7" "00449665" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "Epi25 exome study variant server" "" "" "" "" "0" "" "" "" "" "00449666" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "Epi25 exome study variant server" "" "" "" "" "0" "" "" "" "" "00449667" "" "" "" "1" "" "00006" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "Epi25 exome study variant server" "" "" "" "" "0" "" "" "" "" "00449668" "" "" "" "1" "" "00006" "{PMID:Leu 2015:26501104}, {PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00413831" "01273" "00449658" "05611" "00449659" "05611" "00449660" "05611" "00449661" "05611" "00449662" "05611" "00449663" "05611" "00449664" "05611" "00449665" "00198" "00449666" "00198" "00449667" "00198" "00449668" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01273, 05611 ## Count = 12 "{{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}}" "0000309127" "01273" "00413831" "00006" "Unknown" "03y06m" "asymptomatic hyper-CKemia (2,897-4,717 IU/L) ; no delayed motor milestones, no exercise-induced muscle pain, no cramps; mild calf hypertrophy, no muscle weakness; MRI muscle no muscle fatty infiltration pelvis/thigh muscles; muscle biopsy myopathic changes, clusters of necrotic and regenerating muscle fibers, few hypertrophic, atrophic, and hypercontracted muscle fibers, small number internal nuclei" "" "" "" "IHC severe reduction dystrophin-N, slight reduction dystrophin-C, and positive expression dystrophin-R" "" "" "" "" "BMD" "incidental finding hyper-CKemia" "" "0000338832" "05611" "00449658" "00006" "Isolated (sporadic)" "5y" "see paper; ..., MRI brain anomalies; cardiac anomalies; urogenital anomalies; ophthalmological anomalies; developmental delay; intellectual disability; no autistic features; epilepsy (effectively treated with Levetiracetam); facial dysmorphisms; no hand dysmorphisms; no synophrys; hypotonia; no attention-deficit/hyperactivity disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "" "0000338833" "05611" "00449659" "00006" "Isolated (sporadic)" "2y6m" "see paper; ..., cardiac anomalies; urogenital anomalies; ophthalmological anomalies; developmental delay; too young to make an autistic spectrum disorder diagnosis; no epilepsy; facial dysmorphisms; hand dysmorphisms; synophrys; hypotonia with ataxic cerebral palsy; no attention-deficit/hyperactivity disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "" "0000338834" "05611" "00449660" "00006" "Unknown" "3y" "see paper; ..., MRI brain no anomalies; no cardiac anomalies; no urogenital anomalies; no ophthalmological anomalies; developmental delay; intellectual disability; no autistic features; no epilepsy; facial dysmorphisms; hand dysmorphisms; no synophrys; no hypotonia; no attention-deficit/hyperactivity disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "" "0000338835" "05611" "00449661" "00006" "Isolated (sporadic)" "18y" "see paper; ..., no cardiac anomalies; no urogenital anomalies; ophthalmological anomalies; developmental delay; intellectual disability; mild autistic features; no epilepsy; no facial dysmorphisms; no hand dysmorphisms; synophrys; no hypotonia" "" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "" "0000338836" "05611" "00449662" "00006" "Isolated (sporadic)" "1y9m" "see paper; ..., MRI brain anomalies; no urogenital anomalies; ophthalmological anomalies; severe developmental delay; intellectual disability; too young to make an autistic spectrum disorder diagnosis; no epilepsy; facial dysmorphisms; hand dysmorphisms; no synophrys; no hypotonia; no attention-deficit/hyperactivity disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "" "0000338837" "05611" "00449663" "00006" "Isolated (sporadic)" "9y" "see paper; ...no urogenital anomalies; developmental delay; intellectual disability; mild autistic features; no epilepsy; facial dysmorphisms; hand dysmorphisms; no synophrys; no hypotonia; attention-deficit/hyperactivity disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "" "0000338838" "05611" "00449664" "00006" "Unknown" "15y" "see paper; ..., MRI brain no anomalies; no cardiac anomalies; no urogenital anomalies; no ophthalmological anomalies; developmental delay; intellectual disability; mild autistic features; epilepsy. multiple anti-seizure medication; no facial dysmorphisms; no hand dysmorphisms; no synophrys; no hypotonia; no attention-deficit/hyperactivity disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "" "0000338839" "00198" "00449665" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-acquired focal epilepsy" "" "0000338840" "00198" "00449666" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-acquired focal epilepsy" "" "0000338841" "00198" "00449667" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "genetic generalized epilepsy" "" "0000338842" "00198" "00449668" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sudden unexpected death in epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000415111" "00413831" "1" "03725" "03725" "2022-07-23 17:09:06" "00006" "2022-09-22 21:48:52" "RT-PCR;SEQ;SEQ-ON" "DNA;RNA" "" "Genomic short- and long-read whole DMD gene sequencing; dystrophin protein and DMD mRNA studies" "0000451249" "00449658" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000451250" "00449659" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES/WGS trio" "0000451251" "00449660" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES/WGS trio" "0000451252" "00449661" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000451253" "00449662" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000451254" "00449663" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000451255" "00449664" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000451256" "00449665" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451257" "00449666" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451258" "00449667" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451259" "00449668" "1" "00006" "00006" "2024-04-29 16:49:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000415111" "DMD" ## 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 = 12 "{{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}}" "0000878930" "0" "90" "8" "33038317" "33229399" "ins" "0" "00006" "KCNB2_000000" "NC_000023.10:g.33038317_33229399ins[g.73787774_73793824;C;[NC_000023.10:33227444_33227460]]" "" "{PMID:Zie 2022:36092865}" "" "" "" "DUPLICATE record" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000985077" "0" "90" "8" "73848731" "73848731" "subst" "0" "00006" "KCNB2_000009" "g.73848731A>G" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "De novo" "" "" "0" "" "" "g.72936496A>G" "" "pathogenic (dominant)" "ACMG" "0000985078" "0" "90" "8" "73480250" "73480250" "subst" "0" "00006" "KCNB2_000001" "g.73480250G>A" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "De novo" "" "" "0" "" "" "g.72568015G>A" "" "pathogenic (dominant)" "ACMG" "0000985079" "0" "70" "8" "73849527" "73849527" "subst" "0" "00006" "KCNB2_000010" "g.73849527C>T" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.72937292C>T" "" "likely pathogenic (dominant)" "ACMG" "0000985080" "0" "90" "8" "73848231" "73848231" "subst" "0" "00006" "KCNB2_000003" "g.73848231C>T" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "De novo" "" "" "0" "" "" "g.72935996C>T" "" "pathogenic (dominant)" "ACMG" "0000985081" "0" "90" "8" "73848584" "73848584" "subst" "0" "00006" "KCNB2_000007" "g.73848584T>G" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "De novo" "" "" "0" "" "" "g.72936349T>G" "" "pathogenic (dominant)" "ACMG" "0000985082" "0" "90" "8" "73848501" "73848501" "subst" "0" "00006" "KCNB2_000006" "g.73848501G>A" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "De novo" "" "" "0" "" "" "g.72936266G>A" "" "pathogenic (dominant)" "ACMG" "0000985083" "11" "90" "8" "73848417" "73848417" "subst" "0" "00006" "KCNB2_000005" "g.73848417C>T" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "father mosaic (17T/192C)" "Germline" "" "" "0" "" "" "g.72936182C>T" "" "pathogenic (dominant)" "ACMG" "0000985084" "0" "70" "8" "73480441" "73480441" "subst" "0" "00006" "KCNB2_000002" "g.73480441A>G" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.72568206A>G" "" "likely pathogenic (dominant)" "ACMG" "0000985085" "0" "70" "8" "73480441" "73480441" "subst" "0" "00006" "KCNB2_000002" "g.73480441A>G" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.72568206A>G" "" "likely pathogenic (dominant)" "ACMG" "0000985086" "0" "90" "8" "73848714" "73848714" "subst" "0" "00006" "KCNB2_000008" "g.73848714C>T" "" "{PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.72936479C>T" "" "pathogenic (dominant)" "ACMG" "0000985087" "0" "90" "8" "73848314" "73848314" "subst" "0" "00006" "KCNB2_000004" "g.73848314G>A" "" "{PMID:Leu 2015:26501104}, {PMID:Bhat 2024:38503299}, {DOI:Bhat 2024:10.1016/j.ajhg.2024.02.014}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.72936079G>A" "" "pathogenic (dominant)" "ACMG" ## 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 KCNB2 ## Count = 12 "{{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}}" "0000878930" "00010339" "90" "0" "0" "0" "0" "c.=" "r.=" "p.=" "" "0000985077" "00010339" "90" "1141" "0" "1141" "0" "c.1141A>G" "r.(?)" "p.(Thr381Ala)" "" "0000985078" "00010339" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Gly94Glu)" "" "0000985079" "00010339" "70" "1937" "0" "1937" "0" "c.1937C>T" "r.(?)" "p.(Ala646Val)" "" "0000985080" "00010339" "90" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" "" "0000985081" "00010339" "90" "994" "0" "994" "0" "c.994T>G" "r.(?)" "p.(Tyr332Asp)" "" "0000985082" "00010339" "90" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Arg304Gln)" "" "0000985083" "00010339" "90" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Pro276Leu)" "" "0000985084" "00010339" "70" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Thr158Ala)" "" "0000985085" "00010339" "70" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Thr158Ala)" "" "0000985086" "00010339" "90" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Ala375Val)" "" "0000985087" "00010339" "90" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Ala242Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000415111" "0000878930" "0000451249" "0000985077" "0000451250" "0000985078" "0000451251" "0000985079" "0000451252" "0000985080" "0000451253" "0000985081" "0000451254" "0000985082" "0000451255" "0000985083" "0000451256" "0000985084" "0000451257" "0000985085" "0000451258" "0000985086" "0000451259" "0000985087"