### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LIPT2) # 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}}" "LIPT2" "lipoyl(octanoyl) transferase 2 (putative)" "11" "q13.4" "unknown" "NG_051333.1" "UD_136088277749" "" "https://www.LOVD.nl/LIPT2" "" "1" "37216" "387787" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LIPT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-01 13:09:03" "00000" "2024-04-19 20:27:30" ## 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}}" "00011426" "LIPT2" "lipoyl(octanoyl) transferase 2 (putative)" "001" "NM_001144869.1" "" "NP_001138341.1" "" "" "" "-7" "953" "696" "74204755" "74202923" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05373" "NELABA" "encephalopathy, neonatal, severe, with lactic acidosis and brain abnormalities (NELABA)" "AR" "617668" "" "autosomal recessive" "" "00006" "2018-01-01 13:10:46" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LIPT2" "05373" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00147086" "" "" "" "1" "" "00006" "{PMID:Habarou 2017:28757203}" "2-generation family, affected son, unaffected heterozygous carrier parents" "M" "no" "Cote D\'Ivoire (Ivory Coast);France" "" "0" "" "" "" "28757203-Fam1Pat1" "00147087" "" "" "" "2" "" "00006" "{PMID:Habarou 2017:28757203}" "2-generation family, affected bother/sister, unaffected heterozygous carrier parents" "M" "no" "France" "00y02m" "0" "" "" "" "28757203-Fam2Pat2" "00147088" "" "" "00147087" "1" "" "00006" "{PMID:Habarou 2017:28757203}" "sister of Pat2" "F" "" "France" "00y07m" "0" "" "" "" "28757203-Fam2Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00147086" "05373" "00147087" "05373" "00147088" "05373" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05373 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000119802" "05373" "00147086" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., neonatal onset; truncal hypotonia, spastic tetraparesis, dystonia, epilepsy, microcephaly, delayed psychomotor development, hyperlactatemia; MRI supra-tentorial cortical atrophy, ventricular dilatation, bifrontal white matter abnormalities, delayed myelination, progressive thalamus and putamen cerebral hyperintensities" "" "" "" "" "" "" "" "" "0000119803" "05373" "00147087" "00006" "Familial, autosomal recessive" "" "see paper; ..., onset neonatal; 2m-deceased without any development; severe muscular hypotonia; MRI enlarged lateral ventricules, periventricular cystic changes" "" "" "" "" "" "" "" "" "0000119804" "05373" "00147088" "00006" "Familial, autosomal recessive" "" "see paper; ..., onset neonatal; 7m-deceased without any development; respiratory distress; MRI enlarged lateral ventricules, cortical and white matter cystic abnormalities, decreased gyrification cerebral hemispheres" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147941" "00147086" "1" "00006" "00006" "2018-01-01 13:20:56" "00006" "2018-01-01 13:24:32" "SEQ" "DNA" "" "" "0000147942" "00147087" "1" "00006" "00006" "2018-01-01 13:28:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147943" "00147088" "1" "00006" "00006" "2018-01-01 13:34:49" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000147941" "LIPT2" "0000147942" "LIPT2" "0000147943" "LIPT2" ## 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 = 9 "{{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}}" "0000241210" "1" "90" "11" "74204660" "74204660" "subst" "0" "00006" "LIPT2_000001" "g.74204660A>G" "" "{PMID:Habarou 2017:28757203}" "" "" "" "Germline" "" "" "0" "" "" "g.74493615A>G" "" "pathogenic" "" "0000241211" "2" "90" "11" "74204372" "74204372" "subst" "0.000160609" "00006" "LIPT2_000002" "g.74204372A>C" "" "{PMID:Habarou 2017:28757203}" "" "" "" "Germline" "" "" "0" "" "" "g.74493327A>C" "" "pathogenic" "" "0000241212" "1" "90" "11" "74204435" "74204435" "subst" "0" "00006" "LIPT2_000003" "g.74204435A>C" "" "{PMID:Habarou 2017:28757203}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74493390A>C" "" "pathogenic" "" "0000241213" "2" "90" "11" "74204372" "74204372" "subst" "0.000160609" "00006" "LIPT2_000002" "g.74204372A>C" "" "{PMID:Habarou 2017:28757203}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74493327A>C" "" "pathogenic" "" "0000241214" "1" "90" "11" "74204435" "74204435" "subst" "0" "00006" "LIPT2_000003" "g.74204435A>C" "" "{PMID:Habarou 2017:28757203}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74493390A>C" "" "pathogenic" "" "0000241215" "2" "90" "11" "74204372" "74204372" "subst" "0.000160609" "00006" "LIPT2_000002" "g.74204372A>C" "" "{PMID:Habarou 2017:28757203}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74493327A>C" "" "pathogenic" "" "0000545737" "0" "30" "11" "74204600" "74204600" "subst" "6.89433E-5" "01804" "LIPT2_000004" "g.74204600C>G" "" "" "" "LIPT2(NM_001144869.1):c.149G>C (p.(Cys50Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74493555C>G" "" "likely benign" "" "0000979883" "0" "90" "11" "74204372" "74204372" "subst" "0.000160609" "01804" "LIPT2_000002" "g.74204372A>C" "" "" "" "LIPT2(NM_001144869.3):c.377T>G (p.(Leu126Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979884" "0" "50" "11" "74204642" "74204642" "subst" "0.000569425" "01804" "LIPT2_000005" "g.74204642A>G" "" "" "" "LIPT2(NM_001144869.3):c.107T>C (p.(Ile36Thr))" "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 LIPT2 ## Count = 9 "{{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}}" "0000241210" "00011426" "90" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Leu30Pro)" "" "0000241211" "00011426" "90" "377" "0" "377" "0" "c.377T>G" "r.(?)" "p.(Leu126Arg)" "" "0000241212" "00011426" "90" "314" "0" "314" "0" "c.314T>G" "r.314u>g" "p.Leu105Arg" "" "0000241213" "00011426" "90" "377" "0" "377" "0" "c.377T>G" "r.377u>g" "p.Leu126Arg" "" "0000241214" "00011426" "90" "314" "0" "314" "0" "c.314T>G" "r.(?)" "p.(Leu105Arg)" "" "0000241215" "00011426" "90" "377" "0" "377" "0" "c.377T>G" "r.(?)" "p.(Leu126Arg)" "" "0000545737" "00011426" "30" "149" "0" "149" "0" "c.149G>C" "r.(?)" "p.(Cys50Ser)" "" "0000979883" "00011426" "90" "377" "0" "377" "0" "c.377T>G" "r.(?)" "p.(Leu126Arg)" "" "0000979884" "00011426" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Ile36Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000147941" "0000241210" "0000147941" "0000241211" "0000147942" "0000241212" "0000147942" "0000241213" "0000147943" "0000241214" "0000147943" "0000241215"