### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADRA2B) # 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}}" "ADRA2B" "adrenoceptor alpha 2B" "2" "q11.1" "unknown" "NG_032950.1" "UD_136021148713" "" "https://www.LOVD.nl/ADRA2B" "" "1" "282" "151" "104260" "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/ADRA2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-19 14:08:45" "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}}" "00002179" "ADRA2B" "adrenoceptor alpha 2B" "001" "NM_000682.5" "" "NP_000673.2" "" "" "" "1" "3266" "1344" "96781888" "96778623" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00271426" "" "" "" "11" "" "00006" "{PMID:De Fusco 2014:24114805}, {PMID:Corbett 2019:31664034}" "5-generation family, 11 affected (6F, 5M)" "F;M" "" "Italy" "" "0" "" "" "" "FamA/Fam4" "00271442" "" "" "" "4" "" "00006" "{PMID:De Fusco 2014:24114805}, {PMID:Corbett 2019:31664034}" "4-generation family, 5 affected (3F, 2M)" "F;M" "no" "Italy" "" "0" "" "" "" "FamB/Fam15" "00292853" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361486" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "no" "Saudi Arabia" "" "0" "" "" "" "10DG0351" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00271426" "05408" "00271442" "05408" "00292853" "00198" "00361486" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05408 ## Count = 3 "{{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}}" "0000208033" "05408" "00271426" "00006" "Familial, autosomal dominant" "" "mean age onset 22.3y (12-50y); myoclonus/cortical tremor 11/11, tonic-clonic seizures 11/11, focal seizures 3/11; intellectual disability mild 3/11, moderate 1/11; dementia 0/11; drug resistant epilepsy 2/11; ataxia 0/11" "" "" "" "" "" "" "" "" "FAME2" "autosomal dominant cortical myoclonus and epilepsy" "" "0000208050" "05408" "00271442" "00006" "Familial, autosomal dominant" "" "mean age onset 30.3y (18-49y); myoclonus/cortical tremor 4/4, tonic-clonic seizures 3/4, focal seizures 2/4; intellectual disability 0/4; dementia 0/4; drug resistant epilepsy 2/4; ataxia 0/4" "" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "" "0000256891" "00139" "00361486" "00006" "Familial, autosomal recessive" "0y1m" "confirmed Turner syndrome with unexplained microcephaly and global developmental delay" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## 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}}" "0000272577" "00271426" "1" "00006" "00006" "2019-12-19 13:00:25" "" "" "SEQ" "DNA" "" "" "0000272602" "00271442" "1" "00006" "00006" "2019-12-19 14:00:00" "" "" "SEQ" "DNA" "" "" "0000294021" "00292853" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362714" "00361486" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000272577" "ADRA2B" "0000272602" "ADRA2B" "0000362714" "ADRA2B" ## 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 = 13 "{{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}}" "0000258980" "0" "10" "2" "96780716" "96780716" "subst" "0.671663" "02325" "ADRA2B_000001" "g.96780716T>G" "" "" "" "ADRA2B(NM_000682.7):c.1182A>C (p.G394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000517130" "0" "10" "2" "96780989" "96780997" "dup" "0" "02325" "ADRA2B_000003" "g.96780989_96780997dup" "" "" "" "ADRA2B(NM_000682.7):c.899_907dupAGAGGAGGA (p.E307_E309dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000517131" "0" "30" "2" "96781413" "96781413" "subst" "1.62889E-5" "01804" "ADRA2B_000004" "g.96781413C>A" "" "" "" "ADRA2B(NM_000682.5):c.476G>T (p.(Arg159Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96115674C>A" "" "likely benign" "" "0000626506" "1" "95" "2" "96781203" "96781214" "delins" "0" "00006" "ADRA2B_000005" "g.96781203_96781214delinsCTGCCAAAC" "" "{PMID:De Fusco 2014:24114805}, {PMID:Corbett 2019:31664034}" "" "675_686delTGGTGGGGCTTTinsGTTTGGCAG" "pathogenicity variant questioned by Corbett 2019" "Germline" "yes" "" "0" "" "" "g.96115464_96115475delinsCTGCCAAAC" "" "pathogenic (dominant)" "" "0000626531" "1" "95" "2" "96781203" "96781214" "delins" "0" "00006" "ADRA2B_000005" "g.96781203_96781214delinsCTGCCAAAC" "" "{PMID:De Fusco 2014:24114805}, {PMID:Corbett 2019:31664034}" "" "675_686delTGGTGGGGCTTTinsGTTTGGCAG" "pathogenicity variant questioned by Corbett 2019" "Germline" "yes" "" "0" "" "" "g.96115464_96115475delinsCTGCCAAAC" "" "pathogenic (dominant)" "" "0000626532" "1" "50" "2" "96781203" "96781214" "delins" "0" "00006" "ADRA2B_000005" "g.96781203_96781214delinsCTGCCAAAC" "" "{PMID:Corbett 2019:31664034}" "" "675_686delTGGTGGGGCTTTinsGTTTGGCAG" "variant initially linked to ADCME phenotype" "SUMMARY record" "" "" "0" "" "" "g.96115464_96115475delinsCTGCCAAAC" "" "VUS" "" "0000650710" "1" "70" "2" "96781225" "96781225" "subst" "0" "03575" "ADRA2B_000006" "g.96781225G>A" "2/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs786205528}" "Germline" "" "rs786205528" "0" "" "" "g.96115486G>A" "" "likely pathogenic" "" "0000763088" "3" "70" "2" "96781225" "96781225" "subst" "0" "00006" "ADRA2B_000006" "g.96781225G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.96115486G>A" "" "likely pathogenic" "ACMG" "0000850068" "0" "30" "2" "96780763" "96780763" "subst" "0.00187801" "02326" "ADRA2B_000007" "g.96780763C>T" "" "" "" "ADRA2B(NM_000682.7):c.1126G>A (p.(Val376Ile)), ADRA2B(NM_000682.7):c.1135G>A (p.V379I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975460" "0" "30" "2" "96780763" "96780763" "subst" "0.00187801" "01804" "ADRA2B_000007" "g.96780763C>T" "" "" "" "ADRA2B(NM_000682.7):c.1126G>A (p.(Val376Ile)), ADRA2B(NM_000682.7):c.1135G>A (p.V379I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993087" "0" "30" "2" "96780907" "96780907" "subst" "0" "01804" "ADRA2B_000008" "g.96780907G>A" "" "" "" "ADRA2B(NM_000682.5):c.991C>T (p.(Arg331Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993088" "0" "50" "2" "96781447" "96781447" "subst" "0" "01804" "ADRA2B_000009" "g.96781447G>A" "" "" "" "ADRA2B(NM_000682.5):c.442C>T (p.(Leu148Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033532" "0" "50" "2" "96780597" "96780597" "subst" "4.09259E-6" "01804" "ADRA2B_000010" "g.96780597C>T" "" "" "" "ADRA2B(NM_000682.7):c.1301G>A (p.(Arg434His))" "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 ADRA2B ## Count = 13 "{{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}}" "0000258980" "00002179" "10" "1182" "0" "1182" "0" "c.1182A>C" "r.(?)" "p.(Gly394=)" "" "0000517130" "00002179" "10" "890" "0" "910" "0" "c.890_910=" "r.(=)" "p.(Ala297=)" "" "0000517131" "00002179" "30" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Arg159Leu)" "" "0000626506" "00002179" "95" "675" "0" "686" "0" "c.675_686delinsGTTTGGCAG" "r.(?)" "p.(His225_Leu229delinsGlnPheGlyArg)" "" "0000626531" "00002179" "95" "675" "0" "686" "0" "c.675_686delinsGTTTGGCAG" "r.(?)" "p.(His225_Leu229delinsGlnPheGlyArg)" "" "0000626532" "00002179" "50" "675" "0" "686" "0" "c.675_686delinsGTTTGGCAG" "r.(?)" "p.(His225_Leu229delinsGlnPheGlyArg)" "" "0000650710" "00002179" "70" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222*)" "" "0000763088" "00002179" "70" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222*)" "" "0000850068" "00002179" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Ile)" "" "0000975460" "00002179" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Ile)" "" "0000993087" "00002179" "30" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Gln328*)" "" "0000993088" "00002179" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Leu148Phe)" "" "0001033532" "00002179" "50" "1292" "0" "1292" "0" "c.1292G>A" "r.(?)" "p.(Arg431His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000272577" "0000626506" "0000272602" "0000626531" "0000294021" "0000650710" "0000362714" "0000763088"