### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ELP2) # 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}}" "ELP2" "elongator acetyltransferase complex subunit 2" "18" "q12.1" "unknown" "NC_000018.9" "UD_132378695902" "" "https://www.LOVD.nl/ELP2" "" "1" "18248" "55250" "616054" "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" "2021-06-14 19:14:38" "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}}" "00007054" "ELP2" "elongation protein 2 homolog (S. cerevisiae), transcript variant 2" "002" "NM_018255.2" "" "NP_060725.1" "" "" "" "-60" "2565" "2481" "33709837" "33754688" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05948" "MRT58" "mental retardation, autosomal recessive, type 58 (MRT58)" "AR" "617270" "" "" "" "00006" "2021-06-14 19:14:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ELP2" "04147" "ELP2" "05948" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00019841" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "F" "?" "" "" "0" "" "" "" "" "00375636" "" "" "" "2" "" "00006" "{PMID:Srivastava 2014:25131622}" "family, several affected" "" "" "United States" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00019841" "00139" "00375636" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04147, 05948 ## Count = 2 "{{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}}" "0000017580" "00139" "00019841" "00705" "Isolated (sporadic)" "?" "ID from infancy, regression at adult age; shows parkinsonism and dystonia" "" "" "" "" "" "" "" "" "" "" "" "0000270849" "00198" "00375636" "00006" "Familial, autosomal recessive" "" "progressive; developmental regression; intellectual disability/developmental delay; spastic diplegia; autism spectrum disorder; microcephaly; spastic diplegia; hyper-reflexia; self-injurious behavior; MRI brain normal" "" "25y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019833" "00019841" "1" "00705" "00705" "2014-09-03 12:57:01" "00006" "2014-11-07 20:22:53" "SEQ" "DNA" "" "" "0000376833" "00375636" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000019833" "CARD8" "0000019833" "ELP2" "0000019833" "WDR45" ## 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 = 24 "{{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}}" "0000040288" "1" "10" "18" "33713240" "33713240" "subst" "4.06147E-5" "00705" "ELP2_000001" "g.33713240C>T" "" "{PMID:Gilissen 2014:24896178}" "" "" "variant not causative for the phenotype but may give ID carriership" "De novo" "?" "" "0" "" "" "g.36133277C>T" "" "benign" "" "0000248918" "0" "10" "18" "33718326" "33718326" "subst" "0.345105" "02325" "ELP2_000003" "g.33718326A>C" "" "" "" "ELP2(NM_001242875.3):c.382A>C (p.T128P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36138363A>C" "" "benign" "" "0000267812" "0" "10" "18" "33725931" "33725931" "subst" "0.345095" "02325" "ELP2_000007" "g.33725931G>A" "" "" "" "ELP2(NM_001242875.3):c.1108G>A (p.V370M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36145968G>A" "" "benign" "" "0000267813" "0" "10" "18" "33713287" "33713287" "subst" "0.34468" "02325" "ELP2_000002" "g.33713287T>A" "" "" "" "ELP2(NM_001242875.3):c.217+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36133324T>A" "" "benign" "" "0000267814" "0" "10" "18" "33750046" "33750046" "subst" "0.353227" "02325" "ELP2_000008" "g.33750046C>T" "" "" "" "ELP2(NM_001242875.3):c.2292C>T (p.C764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36170083C>T" "" "benign" "" "0000267815" "0" "10" "18" "33719434" "33719434" "subst" "0.317013" "02325" "ELP2_000004" "g.33719434C>T" "" "" "" "ELP2(NM_001242875.3):c.576C>T (p.A192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36139471C>T" "" "benign" "" "0000267816" "0" "10" "18" "33721325" "33721325" "subst" "0" "02325" "ELP2_000005" "g.33721325C>T" "" "" "" "ELP2(NM_001242875.3):c.783+161C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36141362C>T" "" "benign" "" "0000267817" "0" "10" "18" "33721376" "33721376" "subst" "0" "02325" "ELP2_000006" "g.33721376G>C" "" "" "" "ELP2(NM_001242875.3):c.783+212G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36141413G>C" "" "benign" "" "0000343061" "0" "70" "18" "33736538" "33736538" "subst" "1.62715E-5" "02327" "ELP2_000009" "g.33736538G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36156575G>A" "" "likely pathogenic" "" "0000564727" "0" "70" "18" "33736537" "33736537" "subst" "2.84754E-5" "01804" "ELP2_000010" "g.33736537C>T" "" "" "" "ELP2(NM_001242875.1):c.1579C>T (p.(Arg527Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36156574C>T" "" "likely pathogenic" "" "0000564728" "0" "90" "18" "33736538" "33736538" "subst" "0" "02327" "ELP2_000011" "g.33736538G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36156575G>T" "" "pathogenic" "" "0000692589" "0" "30" "18" "33747092" "33747092" "subst" "4.57544E-5" "01943" "ELP2_000012" "g.33747092C>T" "" "" "" "ELP2(NM_018255.4):c.1983C>T (p.T661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788888" "1" "70" "18" "33722272" "33722272" "subst" "4.06246E-6" "00006" "ELP2_000013" "g.33722272A>G" "" "{PMID:Srivastava 2014:25131622}" "" "NM_001242875.1:c.812A>G" "" "Germline" "" "" "0" "" "" "g.36142309A>G" "" "likely pathogenic" "" "0000788919" "2" "70" "18" "33736537" "33736537" "subst" "2.84754E-5" "00006" "ELP2_000010" "g.33736537C>T" "" "{PMID:Srivastava 2014:25131622}" "" "NM_001242875.1:c.1579C>T" "" "Germline" "" "" "0" "" "" "g.36156574C>T" "" "likely pathogenic" "" "0000808471" "0" "50" "18" "33750158" "33750158" "subst" "2.43667E-5" "01943" "ELP2_000014" "g.33750158C>T" "" "" "" "ELP2(NM_018255.4):c.2209C>T (p.R737*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865677" "0" "30" "18" "33719409" "33719409" "subst" "0.0149595" "01804" "ELP2_000015" "g.33719409G>T" "" "" "" "ELP2(NM_001242875.1):c.551G>T (p.(Arg184Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865678" "0" "30" "18" "33722921" "33722921" "subst" "0.00152965" "01943" "ELP2_000016" "g.33722921A>G" "" "" "" "ELP2(NM_018255.4):c.788A>G (p.E263G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983025" "0" "50" "18" "33709946" "33709946" "subst" "8.12183E-6" "01804" "ELP2_000017" "g.33709946G>T" "" "" "" "ELP2(NM_018255.4):c.50G>T (p.(Arg17Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983026" "0" "30" "18" "33716266" "33716266" "subst" "0" "01804" "ELP2_000018" "g.33716266T>G" "" "" "" "ELP2(NM_018255.4):c.218-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983027" "0" "50" "18" "33716266" "33716266" "del" "0" "01804" "ELP2_000019" "g.33716266del" "" "" "" "ELP2(NM_018255.4):c.218-4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983028" "0" "50" "18" "33726306" "33726306" "subst" "5.28872E-5" "01804" "ELP2_000020" "g.33726306G>A" "" "" "" "ELP2(NM_018255.4):c.1087G>A (p.(Gly363Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983029" "0" "50" "18" "33738791" "33738791" "subst" "0.000159115" "01804" "ELP2_000021" "g.33738791A>G" "" "" "" "ELP2(NM_018255.4):c.1465-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042413" "0" "30" "18" "33726314" "33726314" "subst" "6.91585E-5" "01804" "ELP2_000022" "g.33726314G>A" "" "" "" "ELP2(NM_018255.4):c.1095G>A (p.(Leu365=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042414" "0" "50" "18" "33736556" "33736556" "subst" "1.62748E-5" "01804" "ELP2_000023" "g.33736556G>A" "" "" "" "ELP2(NM_018255.4):c.1403G>A (p.(Arg468Gln))" "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 ELP2 ## Count = 24 "{{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}}" "0000040288" "00007054" "70" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60*)" "2" "0000248918" "00007054" "10" "382" "0" "382" "0" "c.382A>C" "r.(?)" "p.(Thr128Pro)" "" "0000267812" "00007054" "10" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Val305Met)" "" "0000267813" "00007054" "10" "217" "8" "217" "8" "c.217+8T>A" "r.(=)" "p.(=)" "" "0000267814" "00007054" "10" "2097" "0" "2097" "0" "c.2097C>T" "r.(?)" "p.(Cys699=)" "" "0000267815" "00007054" "10" "523" "599" "523" "599" "c.523+599C>T" "r.(=)" "p.(=)" "" "0000267816" "00007054" "10" "588" "161" "588" "161" "c.588+161C>T" "r.(=)" "p.(=)" "" "0000267817" "00007054" "10" "588" "212" "588" "212" "c.588+212G>C" "r.(=)" "p.(=)" "" "0000343061" "00007054" "70" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000564727" "00007054" "70" "1384" "0" "1384" "0" "c.1384C>T" "r.(?)" "p.(Arg462Trp)" "" "0000564728" "00007054" "90" "1385" "0" "1385" "0" "c.1385G>T" "r.(?)" "p.(Arg462Leu)" "" "0000692589" "00007054" "30" "1983" "0" "1983" "0" "c.1983C>T" "r.(?)" "p.(Thr661=)" "" "0000788888" "00007054" "70" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(His206Arg)" "" "0000788919" "00007054" "70" "1384" "0" "1384" "0" "c.1384C>T" "r.(?)" "p.(Arg462Trp)" "" "0000808471" "00007054" "50" "2209" "0" "2209" "0" "c.2209C>T" "r.(?)" "p.(Arg737*)" "" "0000865677" "00007054" "30" "523" "574" "523" "574" "c.523+574G>T" "r.(=)" "p.(=)" "" "0000865678" "00007054" "30" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(Glu263Gly)" "" "0000983025" "00007054" "50" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Arg17Leu)" "" "0000983026" "00007054" "30" "218" "-4" "218" "-4" "c.218-4T>G" "r.spl?" "p.?" "" "0000983027" "00007054" "50" "218" "-4" "218" "-4" "c.218-4del" "r.spl?" "p.?" "" "0000983028" "00007054" "50" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Gly363Arg)" "" "0000983029" "00007054" "50" "1465" "-7" "1465" "-7" "c.1465-7A>G" "r.(=)" "p.(=)" "" "0001042413" "00007054" "30" "1095" "0" "1095" "0" "c.1095G>A" "r.(?)" "p.(=)" "" "0001042414" "00007054" "50" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000019833" "0000040288" "0000376833" "0000788888" "0000376833" "0000788919"