### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ECHS1) # 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}}" "ECHS1" "enoyl CoA hydratase, short chain, 1, mitochondrial" "10" "q26.2-q26.3" "unknown" "NG_042077.1" "UD_132319400718" "" "https://www.LOVD.nl/ECHS1" "" "1" "3151" "1892" "602292" "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/ECHS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-09 13:41:38" "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}}" "00006849" "ECHS1" "enoyl CoA hydratase, short chain, 1, mitochondrial" "001" "NM_004092.3" "" "NP_004083.3" "" "" "" "-71" "1258" "873" "135186908" "135175987" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07" "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" "04455" "ECHS1D" "enoyl-CoA hydratase 1 deficiency, short-chain, mitochondrial (ECHS1D)" "AR" "616277" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2020-07-09 13:43:10" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ECHS1" "04455" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00050476" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00306141" "" "" "" "6" "" "01598" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "Family, healthy homozygous mother" "F" "no" "United States" ">45y" "0" "" "None" "Samoa" "ECHS1_F1_M" "00306145" "" "" "00306141" "1" "" "01598" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "Healthy Carrier Father" "M" "no" "United States" ">45y" "0" "" "None" "white, Portugal" "ECHS1_F1_F" "00306146" "" "" "00306141" "1" "" "01598" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "family, more mildly affected son" "M" "no" "United States" ">16y" "0" "" "Low Valine Diet" "Samoa, white, Portugal" "ECHS1_F1_P1" "00306147" "" "" "00306141" "1" "" "01598" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "family, severely affected, multiple decompensations" "M" "no" "United States" "09y" "0" "" "" "Samoa, white, Portugal" "ECHS1_F1_P2" "00306148" "" "" "00306141" "1" "" "01598" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "family, unaffected brother" "M" "no" "United States" ">14y" "0" "" "" "Samoa, white, Portugal" "ECHS1_F1_U" "00306149" "" "" "00306141" "1" "" "01598" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "family, severely affected brother" "M" "no" "United States" ">06y" "0" "" "Low Valine Diet" "Samoan, white, Portuguese," "ECHS1_F1_P3" "00306150" "" "" "" "1" "" "01598" "" "Severely affected patient" "F" "no" "United States" ">08y" "0" "" "" "Samoan, white, Portuguese,Chinese, Phillipino, Native American" "ECHS1_F2_P" "00306151" "" "" "" "2" "" "00006" "{PMID:Peters 2014:25125611}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "Greece" "" "0" "" "" "" "family" "00306171" "" "" "" "1" "" "00006" "{PMID:Sakai 2015:25393721}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00306172" "" "" "" "2" "" "00006" "{PMID:Yamada 2015:26251176}" "3-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "no" "Japan" "" "0" "" "" "" "FamPatIII2/3" "00306173" "" "" "" "1" "" "00006" "{PMID:Wu 2020:32354323}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "patient" "00451705" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00451706" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00464299" "" "" "" "2" "" "04409" "" "" "F" "no" "China" "" "" "" "" "Chinese" "R142" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00050476" "00198" "00306141" "00000" "00306145" "00000" "00306146" "04455" "00306147" "04455" "00306148" "00000" "00306149" "04455" "00306150" "04455" "00306151" "00038" "00306171" "00038" "00306172" "00038" "00306173" "00198" "00451705" "04455" "00451706" "04455" "00464299" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00038, 00139, 00198, 04455 ## 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}}" "0000037088" "00198" "00050476" "00006" "Unknown" "" "clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth" "" "" "" "" "" "" "" "" "" "" "" "0000231985" "00000" "00306141" "01598" "Familial, autosomal recessive" "45y" "Healthy Mother" "" "" "" "" "" "" "" "" "" "" "" "0000231990" "00000" "00306145" "01598" "Familial, autosomal recessive" "45y" "Healthy carrier father" "" "" "" "" "" "" "" "" "" "" "" "0000231991" "04455" "00306146" "01598" "Familial, autosomal recessive" "16y" "6M-regression\r\n2Y metabolic decompensation with lactic acidosis and ketosis\r\nMRI-Leigh\'s disease \r\nmilder clinical course than his brothers \r\n14Y decreased vision and intermittent nystagmus,wheelchair bound\r\nslurred speech and drooling\r\njoint contractures" "00y06m" "14y" "" "" "" "" "" "" "ECHS1 disease" "Mitochondrial Disease" "" "0000231992" "04455" "00306147" "01598" "Familial, autosomal recessive" "" "Suspected Mitochondrial Disease\r\nDied before dx was made\r\nRegression after multiple decompensations, Leigh Syndrome" "" "" "6m" "" "" "" "" "" "ECHS1 disease" "Mitochondrial Disease" "" "0000231993" "04455" "00306149" "01598" "Familial, autosomal recessive" "08y" "hypertonicity\r\nMRI-Leigh syndrome\r\ndevelopmental delay\r\nrecurrent metabolic crises with acidosis and ketosis\r\ntruncal hypotonia\r\nhypertonia in extremities\r\nnon-ambulatory\r\nnystagmus\r\ndysphagia" "00y13m" "06y" "" "Has enzymatic studies confirming ECHS1 disease" "" "" "" "" "ECHS1 disease" "Mitochondrial Disease" "" "0000231994" "04455" "00306150" "01598" "Familial, autosomal recessive" "08y" "regression\r\nmetabolic decompensations\r\nnystagmus\r\nMRI-Leigh syndrome\r\ntruncal hypotonia, hypertonia in extremities\r\nlactic acidosis\r\nnon ambulatory" "00y08m" "08y" "8m" "Has enzymatic studies confirming ECHS1 disease" "" "" "" "" "ECHS1 disease" "Mitochondrial Disease" "" "0000231995" "00038" "00306151" "00006" "Familial, autosomal recessive" "" "see paper; ..., fatal Leigh disease, increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites" "" "" "" "" "" "" "" "" "ECHS1D" "Leigh syndrome" "" "0000232015" "00038" "00306171" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ECHS1D" "Leigh syndrome" "" "0000232016" "00038" "00306172" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ECHS1D" "Leigh syndrome" "" "0000232017" "00198" "00306173" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "ECHS1D" "mitochondrial encephalopathy" "" "0000350375" "00139" "00464299" "04409" "Familial, autosomal recessive" "09y" "Progressive intellectual and motor regression, lactic acidosis, elevated blood ammonia, and abnormal signals in the basal ganglia and brainstem bilaterally." "" "" "" "luoxiaomei" "" "" "" "" "mental retardation" "mental retardation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050421" "00050476" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000307275" "00306141" "1" "01598" "01598" "2020-07-08 22:03:44" "" "" "RT-PCR;SEQ-NG-I;TaqMan;Western" "DNA;RNA;protein" "Fibroblast" "WES, WGS" "0000307276" "00306145" "1" "01598" "01598" "2020-07-08 22:26:21" "" "" "RT-PCR;SEQ-NG-I;TaqMan;Western" "DNA;RNA;protein" "Fibroblast" "WES, WGS" "0000307277" "00306146" "1" "01598" "01598" "2020-07-08 23:31:18" "" "" "RT-PCR;SEQ-NG-I;TaqMan;Western" "DNA;RNA;protein" "Fibroblast" "WES, WGS" "0000307278" "00306147" "1" "01598" "01598" "2020-07-09 00:05:18" "" "" "RT-PCR;SEQ-NG-I;TaqMan;Western" "DNA;RNA;protein" "Fibroblast" "WES, WGS" "0000307279" "00306147" "1" "01598" "01598" "2020-07-09 00:15:22" "" "" "SEQ-NG-I;Western" "DNA;RNA;protein" "Fibroblast" "WES, WGS" "0000307280" "00306148" "1" "01598" "01598" "2020-07-09 00:28:43" "" "" "SEQ-NG-I;TaqMan;Western" "DNA;RNA;protein" "Fibroblast" "WES, WGS" "0000307281" "00306149" "1" "01598" "01598" "2020-07-09 00:43:24" "" "" "SEQ-NG-I;TaqMan;Western" "DNA;RNA;protein" "Fibroblast" "WES, WGS" "0000307282" "00306150" "1" "01598" "01598" "2020-07-09 01:01:23" "" "" "SEQ-NG-I;TaqMan;Western" "DNA;RNA;protein" "Fibroblast" "WES" "0000307283" "00306151" "1" "00006" "00006" "2020-07-09 13:52:24" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000307304" "00306171" "1" "00006" "00006" "2020-07-09 19:09:34" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000307305" "00306172" "1" "00006" "00006" "2020-07-09 19:16:43" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000307306" "00306173" "1" "00006" "00006" "2020-07-09 19:28:13" "" "" "SEQ" "DNA" "" "wes" "0000453309" "00451705" "1" "04459" "04459" "2024-07-02 08:18:11" "" "" "SEQ-NG" "DNA" "" "" "0000453310" "00451706" "1" "04459" "04459" "2024-07-02 08:26:52" "" "" "SEQ-NG" "DNA" "" "" "0000465943" "00464299" "1" "04409" "04409" "2025-03-03 02:58:05" "04409" "2025-03-03 03:07:36" "SEQ-NG-RNA" "RNA" "whole blood" "luoxiaomei" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000307283" "ECHS1" "0000307304" "ECHS1" "0000307305" "ECHS1" "0000307306" "ECHS1" "0000453309" "ECHS1" "0000453310" "ECHS1" "0000465943" "ECHS1" ## 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 = 48 "{{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}}" "0000079401" "0" "90" "10" "123150811" "135380935" "dup" "0" "00006" "ACADSB_000015" "g.123150811_135380935dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000341217" "0" "50" "10" "135180494" "135180494" "subst" "0.000265856" "02327" "ECHS1_000007" "g.135180494G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133366990G>A" "" "VUS" "" "0000341333" "0" "50" "10" "135176412" "135176412" "subst" "0" "02327" "ECHS1_000003" "g.135176412G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133362908G>A" "" "VUS" "" "0000343088" "0" "70" "10" "135184190" "135184190" "subst" "0" "02327" "ECHS1_000010" "g.135184190G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133370686G>T" "" "likely pathogenic" "" "0000344586" "0" "90" "10" "135182465" "135182465" "subst" "0.000105656" "02327" "ECHS1_000008" "g.135182465T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133368961T>C" "" "pathogenic" "" "0000347503" "0" "90" "10" "135176428" "135176428" "subst" "2.84273E-5" "02327" "ECHS1_000004" "g.135176428T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133362924T>C" "" "pathogenic" "" "0000347764" "0" "50" "10" "135180441" "135180441" "subst" "0" "02327" "ECHS1_000006" "g.135180441T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133366937T>C" "" "VUS" "" "0000349345" "0" "10" "10" "135180430" "135180430" "subst" "0.987526" "02327" "ECHS1_000005" "g.135180430A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133366926A>G" "" "benign" "" "0000349624" "0" "10" "10" "135184126" "135184126" "subst" "0.91991" "02327" "ECHS1_000009" "g.135184126G>A" "" "" "" "ECHS1(NM_004092.4):c.224C>T (p.T75I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133370622G>A" "" "benign" "" "0000539566" "0" "50" "10" "135180429" "135180429" "subst" "0" "01943" "ECHS1_000011" "g.135180429C>T" "" "" "" "ECHS1(NM_004092.3):c.583G>A (p.G195S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133366925C>T" "" "VUS" "" "0000539568" "0" "30" "10" "135184107" "135184107" "subst" "0.000149998" "01943" "ECHS1_000013" "g.135184107G>A" "" "" "" "ECHS1(NM_004092.3):c.243C>T (p.A81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133370603G>A" "" "likely benign" "" "0000673871" "3" "90" "10" "135182452" "135182452" "subst" "0.000930546" "01598" "ECHS1_000017" "g.135182452C>T" "" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "This variant lowers normally spliced ECHS1 mRNA, it is only pathogenic in conjunction with a severe second mutation in trans" "Germline" "yes" "" "0" "" "" "g.133368948C>T" "" "likely benign (!)" "" "0000673872" "0" "90" "10" "135176413" "135176413" "subst" "8.12183E-6" "01598" "ECHS1_000016" "g.135176413C>T" "" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "results in unstable ECHS1 protein" "Germline" "yes" "" "0" "" "" "g.133362909C>T" "" "pathogenic (recessive)" "" "0000673874" "11" "90" "10" "135176413" "135176413" "subst" "8.12183E-6" "01598" "ECHS1_000016" "g.135176413C>T" "" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133362909C>T" "" "pathogenic (recessive)" "" "0000673875" "21" "90" "10" "135182452" "135182452" "subst" "0.000930546" "01598" "ECHS1_000017" "g.135182452C>T" "0.17 (439/1284 Samoan participants) TOPMED data" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "This variant lowers normally spliced ECHS1 mRNA, it is only pathogenic in conjunction with a severe second mutation in trans" "Germline" "yes" "rs140410716" "0" "" "" "g.133368948C>T" "" "likely benign (!)" "" "0000673876" "21" "90" "10" "135182452" "135182452" "subst" "0.000930546" "01598" "ECHS1_000017" "g.135182452C>T" "0.17 (439 alleles in 1284 Samoan participants) TOPMED data" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "This variant lowers normally spliced ECHS1 mRNA, it is only pathogenic in conjunction with a severe second mutation in trans" "Germline" "yes" "rs140410716" "0" "" "" "g.133368948C>T" "" "likely benign (!)" "" "0000673877" "11" "90" "10" "135176413" "135176413" "subst" "8.12183E-6" "01598" "ECHS1_000016" "g.135176413C>T" "" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133362909C>T" "" "pathogenic (recessive)" "" "0000673878" "21" "90" "10" "135182452" "135182452" "subst" "0.000930546" "01598" "ECHS1_000017" "g.135182452C>T" "0.17 (439/1284 alleles Samoan participants) TOPMED data" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "This variant lowers normally spliced ECHS1 mRNA, it is only pathogenic in conjunction with a severe second mutation in trans" "Germline" "-" "rs140410716" "0" "" "" "g.133368948C>T" "" "likely benign (!)" "" "0000673879" "21" "90" "10" "135182452" "135182452" "subst" "0.000930546" "01598" "ECHS1_000017" "g.135182452C>T" "0.17 (439/1284 alleles Samoan participants) TOPMED data" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "This variant lowers normally spliced ECHS1 mRNA, it is only pathogenic in conjunction with a severe second mutation in trans" "Germline" "yes" "rs140410716" "0" "" "" "g.133368948C>T" "" "likely benign (!)" "" "0000673880" "11" "90" "10" "135176413" "135176413" "subst" "8.12183E-6" "01598" "ECHS1_000016" "g.135176413C>T" "" "{PMID:Abdenur 2020:32642440}, {DOI:Abdenur 2020:10.1016/j.ymgmr.2020.100617}" "" "" "Decreased ECHS1 proteinstability confirmed via Western blot" "Germline" "yes" "" "0" "" "" "g.133362909C>T" "" "pathogenic (recessive)" "" "0000673881" "11" "90" "10" "135182452" "135182452" "subst" "0.000930546" "01598" "ECHS1_000017" "g.135182452C>T" "0.17 (439/1284 alleles Samoan participants) TOPMED data" "" "" "" "This variant lowers normally spliced ECHS1 mRNA, it is only pathogenic in conjunction with a severe second mutation in trans" "Germline" "yes" "rs140410716" "0" "" "" "g.133368948C>T" "" "likely benign (!)" "" "0000673882" "21" "90" "10" "135176413" "135176413" "subst" "8.12183E-6" "01598" "ECHS1_000016" "g.135176413C>T" "" "" "" "" "Lowers stability of ECHS1 protein confirmed via western blot" "Germline" "yes" "" "0" "" "" "g.133362909C>T" "" "pathogenic (recessive)" "" "0000673884" "21" "90" "10" "135182468" "135182468" "subst" "0" "00006" "ECHS1_000014" "g.135182468G>T" "" "{PMID:Peters 2014:25125611}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133368964G>T" "" "pathogenic (recessive)" "" "0000673885" "11" "90" "10" "135183405" "135183405" "subst" "0" "00006" "ECHS1_000015" "g.135183405C>G" "" "{PMID:Peters 2014:25125611}" "" "" "mRNA with 0.80 deleted product" "Germline" "yes" "" "0" "" "" "g.133369901C>G" "" "pathogenic (recessive)" "" "0000673906" "11" "90" "10" "135186836" "135186836" "subst" "0" "00006" "ECHS1_000018" "g.135186836A>C" "" "{PMID:Sakai 2015:25393721}" "" "" "" "Germline" "" "" "0" "" "" "g.133373332A>C" "" "pathogenic (recessive)" "" "0000673907" "21" "90" "10" "135186833" "135186833" "subst" "0" "00006" "ECHS1_000019" "g.135186833G>A" "" "{PMID:Sakai 2015:25393721}" "" "" "" "Germline" "" "" "0" "" "" "g.133373329G>A" "" "pathogenic (recessive)" "" "0000673910" "21" "90" "10" "135183409" "135183409" "subst" "0" "00006" "ECHS1_000021" "g.135183409G>A" "" "{PMID:Yamada 2015:26251176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133369905G>A" "" "pathogenic (recessive)" "" "0000673911" "11" "90" "10" "135184174" "135184174" "subst" "3.66653E-5" "00006" "ECHS1_000020" "g.135184174T>C" "" "{PMID:Yamada 2015:26251176}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133370670T>C" "" "pathogenic (recessive)" "" "0000673912" "11" "90" "10" "135183403" "135183403" "subst" "0" "00006" "ECHS1_000022" "g.135183403C>T" "" "{PMID:Wu 2020:32354323}" "" "" "" "Germline" "" "" "0" "" "" "g.133369899C>T" "" "pathogenic (recessive)" "" "0000673913" "21" "90" "10" "135183512" "135183512" "subst" "0" "00006" "ECHS1_000023" "g.135183512G>C" "" "{PMID:Wu 2020:32354323}" "" "" "" "Germline" "" "" "0" "" "" "g.135183512G>C" "" "pathogenic (recessive)" "" "0000722750" "0" "50" "10" "135180449" "135180449" "subst" "0" "02329" "ECHS1_000001" "g.135180449G>A" "" "" "" "ECHS1(NM_004092.3):c.563C>T (p.A188V), ECHS1(NM_004092.4):c.563C>T (p.A188V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722751" "0" "50" "10" "135184121" "135184121" "subst" "8.22186E-6" "02329" "ECHS1_000002" "g.135184121C>G" "" "" "" "ECHS1(NM_004092.4):c.229G>C (p.E77Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804354" "0" "50" "10" "135179555" "135179555" "subst" "4.8765E-5" "02325" "ECHS1_000024" "g.135179555C>T" "" "" "" "ECHS1(NM_004092.4):c.664G>A (p.(Ala222Thr), p.A222T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804355" "0" "90" "10" "135182452" "135182452" "subst" "0.000930546" "02327" "ECHS1_000017" "g.135182452C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861866" "0" "50" "10" "135180449" "135180449" "subst" "0" "01943" "ECHS1_000001" "g.135180449G>A" "" "" "" "ECHS1(NM_004092.3):c.563C>T (p.A188V), ECHS1(NM_004092.4):c.563C>T (p.A188V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908396" "0" "70" "10" "135176415" "135176415" "subst" "8.12156E-6" "03779" "ECHS1_000025" "g.135176415G>A" "" "" "" "" "" "Unknown" "" "rs775650144" "0" "" "" "" "" "likely pathogenic" "" "0000925134" "0" "50" "10" "135184253" "135184253" "subst" "0" "02327" "ECHS1_000026" "g.135184253A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987896" "21" "90" "10" "135178207" "135178210" "del" "4.06322E-6" "04459" "ECHS1_000027" "g.135178207_135178210del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133364703_133364706del" "" "likely pathogenic (recessive)" "" "0000987897" "11" "90" "10" "135182452" "135182452" "subst" "0.000930546" "04459" "ECHS1_000017" "g.135182452C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133368948C>T" "" "VUS" "" "0000987898" "11" "90" "10" "135180494" "135180494" "subst" "0.000265856" "04459" "ECHS1_000007" "g.135180494G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133366990G>A" "" "pathogenic (recessive)" "" "0000987899" "21" "50" "10" "135184106" "135184106" "subst" "2.09542E-5" "04459" "ECHS1_000028" "g.135184106C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.133370602C>T" "" "VUS" "" "0001029729" "21" "70" "10" "135178157" "135178157" "subst" "0" "04409" "ECHS1_000029" "g.135178157C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.133364653C>T" "" "likely pathogenic (recessive)" "ACMG" "0001037819" "0" "50" "10" "135180493" "135180493" "subst" "0.000252619" "01804" "ECHS1_000030" "g.135180493C>T" "" "" "" "ECHS1(NM_004092.4):c.519G>A (p.(Ala173=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037820" "0" "50" "10" "135183418" "135183418" "subst" "8.12532E-6" "01804" "ECHS1_000031" "g.135183418T>C" "" "" "" "ECHS1(NM_004092.4):c.404A>G (p.(Asn135Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037821" "0" "30" "10" "135184126" "135184126" "subst" "0.91991" "02325" "ECHS1_000009" "g.135184126G>A" "" "" "" "ECHS1(NM_004092.4):c.224C>T (p.T75I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037822" "0" "30" "10" "135186806" "135186806" "subst" "0.737413" "02325" "ECHS1_000032" "g.135186806A>G" "" "" "" "ECHS1(NM_004092.4):c.32T>C (p.V11A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053744" "0" "50" "10" "135179555" "135179555" "subst" "4.8765E-5" "01804" "ECHS1_000024" "g.135179555C>T" "" "" "" "ECHS1(NM_004092.4):c.664G>A (p.(Ala222Thr), p.A222T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053745" "0" "90" "10" "135186745" "135186745" "subst" "0" "01804" "ECHS1_000033" "g.135186745C>T" "" "" "" "ECHS1(NM_004092.4):c.88+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 ECHS1 ## Count = 48 "{{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}}" "0000079401" "00006849" "00" "-194098" "0" "8388607" "0" "c.-194098_*12025561dup" "" "" "" "0000341217" "00006849" "50" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ala173Val)" "" "0000341333" "00006849" "50" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Ala278Val)" "" "0000343088" "00006849" "70" "160" "0" "160" "0" "c.160C>A" "r.(?)" "p.(Arg54Ser)" "" "0000344586" "00006849" "90" "476" "0" "476" "0" "c.476A>G" "r.(?)" "p.(Gln159Arg)" "" "0000347503" "00006849" "90" "817" "0" "817" "0" "c.817A>G" "r.(?)" "p.(Lys273Glu)" "" "0000347764" "00006849" "50" "571" "0" "571" "0" "c.571A>G" "r.(?)" "p.(Met191Val)" "" "0000349345" "00006849" "10" "582" "0" "582" "0" "c.582T>C" "r.(?)" "p.(Thr194=)" "" "0000349624" "00006849" "10" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thr75Ile)" "" "0000539566" "00006849" "50" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Gly195Ser)" "" "0000539568" "00006849" "30" "243" "0" "243" "0" "c.243C>T" "r.(?)" "p.(Ala81=)" "" "0000673871" "00006849" "90" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(=)" "" "0000673872" "00006849" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000673874" "00006849" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000673875" "00006849" "90" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(=)" "" "0000673876" "00006849" "90" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(=)" "" "0000673877" "00006849" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000673878" "00006849" "90" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(=)" "" "0000673879" "00006849" "90" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(=)" "" "0000673880" "00006849" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000673881" "00006849" "90" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(=)" "" "0000673882" "00006849" "90" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000673884" "00006849" "90" "473" "0" "473" "0" "c.473C>A" "r.473c>a" "p.Ala158Asp" "" "0000673885" "00006849" "90" "414" "3" "414" "3" "c.414+3G>C" "r.[376_414del,=]" "p.[Val126_Ala138del,=]" "3i" "0000673906" "00006849" "90" "2" "0" "2" "0" "c.2T>G" "r.?" "p.0?" "" "0000673907" "00006849" "90" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000673910" "00006849" "90" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ala138Val)" "" "0000673911" "00006849" "90" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Asn59Ser)" "" "0000673912" "00006849" "90" "414" "5" "414" "5" "c.414+5G>A" "r.376_414del" "p.Val126_Ala138del" "3i" "0000673913" "00006849" "90" "310" "0" "310" "0" "c.310C>G" "r.(?)" "p.(Gln104Glu)" "" "0000722750" "00006849" "50" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Ala188Val)" "" "0000722751" "00006849" "50" "229" "0" "229" "0" "c.229G>C" "r.(?)" "p.(Glu77Gln)" "" "0000804354" "00006849" "50" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Ala222Thr)" "" "0000804355" "00006849" "90" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Pro163=)" "" "0000861866" "00006849" "50" "563" "0" "563" "0" "c.563C>T" "r.(?)" "p.(Ala188Val)" "" "0000908396" "00006849" "70" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Thr277Ile)" "" "0000925134" "00006849" "50" "97" "0" "97" "0" "c.97T>C" "r.(?)" "p.(Phe33Leu)" "" "0000987896" "00006849" "90" "759" "0" "762" "0" "c.759_762del" "r.(?)" "p.(Gly255Valfs*21)" "" "0000987897" "00006849" "90" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Pro163=)" "" "0000987898" "00006849" "90" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ala173Val)" "" "0000987899" "00006849" "50" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Val82Met)" "" "0001029729" "00006849" "70" "807" "5" "807" "5" "c.807+5G>A" "r.767_807del" "p.Ser256Argfs*2" "7i" "0001037819" "00006849" "50" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(=)" "" "0001037820" "00006849" "50" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Asn135Ser)" "" "0001037821" "00006849" "30" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thr75Ile)" "" "0001037822" "00006849" "30" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Val11Ala)" "" "0001053744" "00006849" "50" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Ala222Thr)" "" "0001053745" "00006849" "90" "88" "5" "88" "5" "c.88+5G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000050421" "0000079401" "0000307275" "0000673871" "0000307276" "0000673872" "0000307277" "0000673874" "0000307277" "0000673875" "0000307278" "0000673876" "0000307279" "0000673877" "0000307280" "0000673878" "0000307281" "0000673879" "0000307281" "0000673880" "0000307282" "0000673881" "0000307282" "0000673882" "0000307283" "0000673884" "0000307283" "0000673885" "0000307304" "0000673906" "0000307304" "0000673907" "0000307305" "0000673910" "0000307305" "0000673911" "0000307306" "0000673912" "0000307306" "0000673913" "0000453309" "0000987896" "0000453309" "0000987897" "0000453310" "0000987898" "0000453310" "0000987899" "0000465943" "0001029729"