### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACAT1) # 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}}" "ACAT1" "acetyl-CoA acetyltransferase 1" "11" "q22.3" "unknown" "NC_000011.9" "UD_132085231237" "" "https://www.LOVD.nl/ACAT1" "" "1" "93" "38" "607809" "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/ACAT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-02-16 15:26:40" "00006" "2026-02-17 12:49:18" ## 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}}" "00001948" "ACAT1" "acetyl-CoA acetyltransferase 1" "001" "NM_000019.3" "" "NP_000010.1" "" "" "" "-76" "2062" "1284" "107992258" "108018895" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01643" "-" "aciduria, alpha-methylacetoacetic" "AR" "203750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic disease" "metabolic disease" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-02-16 15:43:43" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACAT1" "01643" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00290209" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00438640" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "M" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "French-Canadian" "HSJ0048" "00450485" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Brother affected (died at 20y11m)" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-017" "00451615" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Likely consanguinity. Co-occurrence of two different monogenic diseases (a pathogenic variant in the TTN gene was identified as a secondary finding)." "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-047" "00453608" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat24" "00472448" "" "" "" "1" "" "00006" "{PMID:Soriano-Sexto 2026:41588148}" "" "" "" "Spain" "" "0" "" "" "" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00290209" "00198" "00438640" "06906" "00450485" "01643" "00451615" "01643" "00453608" "02554" "00472448" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01643, 02554, 06906 ## Count = 5 "{{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}}" "0000328543" "06906" "00438640" "00006" "Isolated (sporadic)" "14y" "see paper; ..., severe global developmental delay, severe intellectual disability; 11m-seizures; EEG modified hypsarrhythmia; MRI brain increased sub-arachnoid spaces; axial and limb hypotonia, hyporeflexia, scoliosis, hypersalivation" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000339548" "01643" "00450485" "04221" "Familial, autosomal recessive" "" "Cubitus valgus" "" "00y11m" "" "" "" "" "" "" "Aciduria, alpha-methylacetoacetic" "organic aciduria" "" "0000340286" "01643" "00451615" "04221" "Familial, autosomal recessive" "" "" "" "03y11m" "" "" "" "" "" "" "Alphamethylacetoacetic aciduria" "Aciduria" "" "0000342265" "02554" "00453608" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "6y" "" "" "" "" "" "" "" "alpha-methylacetoacetic aciduria" "inborn error of metabolism" "" "0000357258" "02554" "00472448" "00006" "Familial, autosomal recessive" "6y" "acidosis (HP:0001941); ketosis (HP:0001946); tachypnea (HP:0002789); respiratory alkalosis (HP:0001950)" "" "" "" "" "" "" "" "" "" "aciduria" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291377" "00290209" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000440122" "00438640" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452083" "00450485" "1" "04221" "04221" "2024-05-28 19:25:28" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453217" "00451615" "1" "04221" "04221" "2024-06-14 19:27:05" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000455220" "00453608" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000474116" "00472448" "1" "00006" "00006" "2026-02-16 15:46:49" "00006" "2026-02-17 12:42:45" "RT-PCR;SEQ;SEQ-ON;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000452083" "ACAT1" "0000453217" "ACAT1" "0000474116" "ACAT1" ## 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 = 21 "{{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}}" "0000258889" "0" "10" "11" "107992325" "107992325" "subst" "0.363509" "02325" "ACAT1_000001" "g.107992325T>A" "" "" "" "ACAT1(NM_000019.4):c.-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108121598T>A" "" "benign" "" "0000258890" "0" "10" "11" "107992346" "107992346" "subst" "0.367267" "02325" "ACAT1_000002" "g.107992346G>C" "" "" "" "ACAT1(NM_000019.4):c.13G>C (p.A5P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108121619G>C" "" "benign" "" "0000260484" "0" "70" "11" "108009736" "108009736" "subst" "1.62476E-5" "02326" "ACAT1_000003" "g.108009736G>A" "" "" "" "ACAT1(NM_000019.4):c.547G>A (p.G183R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108139009G>A" "" "likely pathogenic" "" "0000541898" "0" "10" "11" "107992325" "107992325" "subst" "0.363509" "02327" "ACAT1_000001" "g.107992325T>A" "" "" "" "ACAT1(NM_000019.4):c.-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108121598T>A" "" "benign" "" "0000541899" "0" "10" "11" "107992346" "107992346" "subst" "0.367267" "02327" "ACAT1_000002" "g.107992346G>C" "" "" "" "ACAT1(NM_000019.4):c.13G>C (p.A5P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108121619G>C" "" "benign" "" "0000648066" "1" "70" "11" "108009661" "108009661" "subst" "5.6869E-5" "03575" "ACAT1_000005" "g.108009661A>G" "23/2757 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs148639841}" "Germline" "" "rs148639841" "0" "" "" "g.108138934A>G" "" "likely pathogenic" "" "0000690865" "0" "30" "11" "108004982" "108004982" "subst" "4.0618E-6" "01943" "ACAT1_000006" "g.108004982G>T" "" "" "" "ACAT1(NM_000019.3):c.273G>T (p.M91I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936417" "0" "50" "11" "108012357" "108012359" "del" "0" "00006" "ACAT1_000007" "g.108012357_108012359del" "" "{PMID:Hamdan 2017:29100083}" "" "NM_000019:c.752_754del (251_252del)" "" "De novo" "" "" "0" "" "" "g.108141630_108141632del" "" "VUS" "" "0000979291" "0" "50" "11" "108002652" "108002652" "subst" "4.5408E-5" "01804" "ACAT1_000008" "g.108002652C>T" "" "" "" "ACAT1(NM_000019.4):c.91C>T (p.(Arg31Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979292" "0" "50" "11" "108014748" "108014748" "subst" "0.000251875" "01804" "ACAT1_000009" "g.108014748A>G" "" "" "" "ACAT1(NM_000019.4):c.979A>G (p.(Ile327Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979293" "0" "90" "11" "108017047" "108017047" "subst" "2.43738E-5" "01804" "ACAT1_000010" "g.108017047A>G" "" "" "" "ACAT1(NM_000019.4):c.1124A>G (p.(Asn375Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979294" "0" "30" "11" "108017823" "108017823" "subst" "0" "01804" "ACAT1_000011" "g.108017823C>G" "" "" "" "ACAT1(NM_000019.4):c.1164-174C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979295" "0" "50" "11" "108017985" "108017988" "del" "0" "01804" "ACAT1_000012" "g.108017985_108017988del" "" "" "" "ACAT1(NM_001386677.1):c.1173_1176del (p.(Phe391LeufsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986037" "1" "70" "11" "108012430" "108012433" "del" "0" "04221" "ACAT1_000013" "g.108012430_108012433del" "" "" "" "" "Detected in trans with the missense variant NM_000019.4:c.200T>G, p.Leu67Arg. Family history is highly specific for a disease with a single genetic etiology" "Germline" "yes" "rs754619277" "0" "" "" "g.108141703_108141706del" "{CV:1964896}" "likely pathogenic (recessive)" "ACMG" "0000986038" "2" "70" "11" "108004626" "108004626" "subst" "4.06088E-6" "04221" "ACAT1_000014" "g.108004626T>G" "" "" "" "" "Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). Identified as a compound heterozygous with a splicing microdeletion variant NM_000019.4:c.826+3_826+6del" "Germline" "yes" "rs1425401797" "" "" "" "g.108133899T>G" "" "likely pathogenic (recessive)" "ACMG" "0000987745" "3" "90" "11" "108009662" "108009662" "subst" "0.000296553" "04221" "ACAT1_000015" "g.108009662A>G" "" "" "" "" "This variant was confirmed by Sanger sequencing. Other pathogenic variant in TTN gene was also identified in WES analysis as a secondary finding (NM_001267550.2:c.87470_87471del); Abdelkreem 2019:31268215, Sarafoglou 2011:21669895, Sakurai 2007:17236799" "Germline" "yes" "rs199524907" "0" "" "" "g.108138935A>G" "{CV:198030}" "pathogenic (recessive)" "ACMG" "0000998661" "0" "90" "11" "107992334" "107992334" "subst" "0" "01804" "ACAT1_000016" "g.107992334A>G" "" "" "" "ACAT1(NM_000019.3):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998662" "0" "50" "11" "108013235" "108013235" "subst" "0" "01804" "ACAT1_000017" "g.108013235G>A" "" "" "" "ACAT1(NM_000019.3):c.898G>A (p.(Ala300Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007253" "3" "70" "11" "108009644" "108009644" "subst" "5.68731E-5" "00006" "ACAT1_000018" "g.108009644G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.108138917G>C" "" "likely pathogenic" "" "0001068310" "1" "70" "11" "108013178" "108013178" "subst" "8.13577E-6" "00006" "ACAT1_000019" "g.108013178G>A" "" "{PMID:Soriano-Sexto 2026:41588148}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.108142451G>A" "" "likely pathogenic (recessive)" "" "0001068311" "2" "70" "11" "108014650" "108014650" "subst" "0" "00006" "ACAT1_000020" "g.108014650T>C" "" "{PMID:Soriano-Sexto 2026:41588148}" "" "" "effect on RNA predicted from mini-gene splicing assay" "Germline/De novo (untested)" "" "" "0" "" "" "g.108143923T>C" "" "likely pathogenic (recessive)" "" ## 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 ACAT1 ## Count = 21 "{{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}}" "0000258889" "00001948" "10" "-9" "0" "-9" "0" "c.-9T>A" "r.(?)" "p.(=)" "" "0000258890" "00001948" "10" "13" "0" "13" "0" "c.13G>C" "r.(?)" "p.(Ala5Pro)" "" "0000260484" "00001948" "70" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Gly183Arg)" "" "0000541898" "00001948" "10" "-9" "0" "-9" "0" "c.-9T>A" "r.(?)" "p.(=)" "" "0000541899" "00001948" "10" "13" "0" "13" "0" "c.13G>C" "r.(?)" "p.(Ala5Pro)" "" "0000648066" "00001948" "70" "472" "0" "472" "0" "c.472A>G" "r.(?)" "p.(Asn158Asp)" "" "0000690865" "00001948" "30" "273" "0" "273" "0" "c.273G>T" "r.(?)" "p.(Met91Ile)" "" "0000936417" "00001948" "50" "756" "0" "758" "0" "c.756_758del" "r.(?)" "p.(Glu252del)" "" "0000979291" "00001948" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Trp)" "" "0000979292" "00001948" "50" "979" "0" "979" "0" "c.979A>G" "r.(?)" "p.(Ile327Val)" "" "0000979293" "00001948" "90" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Asn375Ser)" "" "0000979294" "00001948" "30" "1164" "-174" "1164" "-174" "c.1164-174C>G" "r.(=)" "p.(=)" "" "0000979295" "00001948" "50" "1164" "-12" "1164" "-9" "c.1164-12_1164-9del" "r.(=)" "p.(=)" "" "0000986037" "00001948" "70" "826" "3" "826" "6" "c.826+3_826+6del" "r.spl?" "p.?" "" "0000986038" "00001948" "70" "200" "0" "200" "0" "c.200T>G" "r.(?)" "p.(Leu67Arg)" "3" "0000987745" "00001948" "90" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asn158Ser)" "6" "0000998661" "00001948" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0000998662" "00001948" "50" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Ala300Thr)" "" "0001007253" "00001948" "70" "455" "0" "455" "0" "c.455G>C" "r.(?)" "p.(Gly152Ala)" "" "0001068310" "00001948" "70" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Ala281Thr)" "" "0001068311" "00001948" "70" "941" "-60" "941" "-60" "c.941-60T>C" "r.(941_1005del)" "p.(Ala314GlyfsTer3)" "9i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000291377" "0000648066" "0000440122" "0000936417" "0000452083" "0000986037" "0000452083" "0000986038" "0000453217" "0000987745" "0000455220" "0001007253" "0000474116" "0001068310" "0000474116" "0001068311"