### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IBA57) # 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}}" "IBA57" "IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)" "1" "q42.13" "unknown" "NC_000001.10" "UD_136087655974" "" "https://www.LOVD.nl/IBA57" "" "1" "27302" "200205" "615316" "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/IBA57_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-17 19:50:47" "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}}" "00009761" "IBA57" "IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)" "001" "NM_001010867.2" "" "NP_001010867.1" "" "" "" "-89" "7815" "1071" "228353429" "228369958" "" "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" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "04506" "MMDS3" "mitochondrial dysfunctions, multiple, syndrome, type 3" "AR" "615330" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2024-11-25 10:02:06" "04507" "SPG74" "paraplegia, spastic?, autosomal recessive, type 74 (SPG-74)" "AR" "616451" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IBA57" "04506" "IBA57" "04507" ## 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}}" "00299773" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00427991" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A077" "00461173" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F032P033II-1" "00461174" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F033P034II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00299773" "00198" "00427991" "00198" "00461173" "04293" "00461174" "04293" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04293, 04506, 04507 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Diagnosis/Criteria}}" "0000227087" "00198" "00299773" "02551" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000318937" "00198" "00427991" "00006" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Spastic paraplegia 74, autosomal recessive" "" "" "" "0000348673" "04293" "00461173" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., subcute onset; best corrected visual acuity (first visit) OD 0.1/OS hand movement; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc;" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "0000348674" "04293" "00461174" "00006" "Familial, autosomal recessive" "6.5y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.15/OS 0.15; fundus oculi (first visit) OD temporal pallor, IP/OS temporal pallor, IP; OCT OD diffuse thinning/OS diffuse thinning; visual field OD -7,38/OS -5,61; electrophysiology mildly reduced (rod/cone); strabismus OS; MRI normal;" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ## 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}}" "0000300887" "00299773" "1" "02551" "02551" "2020-04-21 09:29:02" "" "" "SEQ" "DNA" "" "" "0000429404" "00427991" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000462805" "00461173" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462806" "00461174" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 18 "{{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}}" "0000289333" "0" "50" "1" "228353552" "228353552" "subst" "0" "01943" "IBA57_000001" "g.228353552C>A" "" "" "" "IBA57(NM_001010867.3):c.35C>A (p.P12Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228165851C>A" "" "VUS" "" "0000289334" "0" "10" "1" "228363123" "228363123" "subst" "0.000848073" "01943" "IBA57_000002" "g.228363123T>C" "" "" "" "IBA57(NM_001010867.3):c.980T>C (p.I327T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228175422T>C" "" "benign" "" "0000605238" "0" "30" "1" "228353721" "228353721" "subst" "8.08957E-5" "01943" "IBA57_000003" "g.228353721C>T" "" "" "" "IBA57(NM_001010867.3):c.204C>T (p.P68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228166020C>T" "" "likely benign" "" "0000663787" "3" "50" "1" "228353804" "228353804" "subst" "0" "02551" "IBA57_000004" "g.228353804A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.228166103A>T" "" "VUS" "" "0000675685" "0" "30" "1" "228353817" "228353817" "subst" "2.328E-5" "01943" "IBA57_000005" "g.228353817G>C" "" "" "" "IBA57(NM_001010867.3):c.300G>C (p.L100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717241" "0" "30" "1" "228362650" "228362650" "subst" "0.000493756" "01943" "IBA57_000006" "g.228362650C>T" "" "" "" "IBA57(NM_001010867.3):c.599C>T (p.T200I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717242" "0" "30" "1" "228363091" "228363091" "subst" "2.03625E-5" "01943" "IBA57_000007" "g.228363091C>T" "" "" "" "IBA57(NM_001010867.3):c.948C>T (p.N316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799148" "0" "30" "1" "228353763" "228353763" "subst" "2.41247E-5" "01943" "IBA57_000008" "g.228353763T>G" "" "" "" "IBA57(NM_001010867.3):c.246T>G (p.S82R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799149" "0" "50" "1" "228362991" "228362991" "subst" "1.22108E-5" "01943" "IBA57_000009" "g.228362991G>A" "" "" "" "IBA57(NM_001010867.3):c.848G>A (p.R283Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848571" "0" "30" "1" "228353528" "228353528" "subst" "0.000894277" "01943" "IBA57_000010" "g.228353528C>T" "" "" "" "IBA57(NM_001010867.3):c.11C>T (p.A4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848572" "0" "30" "1" "228362625" "228362625" "subst" "0.000328013" "01943" "IBA57_000011" "g.228362625G>A" "" "" "" "IBA57(NM_001010867.3):c.574G>A (p.A192T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908877" "1" "70" "1" "228362733" "228362733" "subst" "9.85134E-6" "00006" "IBA57_000013" "g.228362733A>G" "" "{PMID:Bournazos 2022:34906502}" "" "" "intron retention" "De novo" "" "" "0" "" "" "g.228175032A>G" "" "pathogenic (recessive)" "" "0000908934" "2" "90" "1" "228353779" "228353779" "dup" "0" "00006" "IBA57_000012" "g.228353779dup" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.228166078dup" "" "pathogenic (recessive)" "" "0001022392" "1" "90" "1" "228362925" "228362925" "subst" "0" "00006" "IBA57_000016" "g.228362925T>C" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP2, PP3, PP4," "Germline" "" "" "0" "" "" "g.228175224T>C" "" "pathogenic" "" "0001022393" "1" "90" "1" "228353798" "228353799" "del" "0" "00006" "IBA57_000014" "g.228353798_228353799del" "" "{PMID:Zheng 2024:39423307}" "" "274_275del" "ACMG PS4, PM2, PM3, PM4PP1, PP4," "Germline" "" "" "0" "" "" "g.228166097_228166098del" "" "pathogenic" "" "0001022548" "2" "90" "1" "228362925" "228362925" "subst" "0" "00006" "IBA57_000016" "g.228362925T>C" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM3, PP1, PP2, PP3, PP4," "Germline" "" "" "0" "" "" "g.228175224T>C" "" "pathogenic" "" "0001022549" "2" "50" "1" "228362524" "228362524" "subst" "8.43163E-6" "00006" "IBA57_000015" "g.228362524G>C" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PM2, PM3, PP1, PP4, BP4," "Germline" "" "" "0" "" "" "g.228174823G>C" "" "VUS" "" "0001050464" "0" "70" "1" "228353833" "228353833" "del" "2.50618E-5" "01804" "IBA57_000017" "g.228353833del" "" "" "" "IBA57(NM_001010867.4):c.316del (p.(Thr106Argfs*145))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 IBA57 ## Count = 18 "{{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}}" "0000289333" "00009761" "50" "35" "0" "35" "0" "c.35C>A" "r.(?)" "p.(Pro12Gln)" "" "0000289334" "00009761" "10" "980" "0" "980" "0" "c.980T>C" "r.(?)" "p.(Ile327Thr)" "" "0000605238" "00009761" "30" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Pro68=)" "" "0000663787" "00009761" "50" "287" "0" "287" "0" "c.287A>T" "r.(?)" "p.(Tyr96Phe)" "" "0000675685" "00009761" "30" "300" "0" "300" "0" "c.300G>C" "r.(?)" "p.(Leu100=)" "" "0000717241" "00009761" "30" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Thr200Ile)" "" "0000717242" "00009761" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Asn316=)" "" "0000799148" "00009761" "30" "246" "0" "246" "0" "c.246T>G" "r.(?)" "p.(Ser82Arg)" "" "0000799149" "00009761" "50" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" "0000848571" "00009761" "30" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ala4Val)" "" "0000848572" "00009761" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "" "0000908877" "00009761" "70" "679" "3" "679" "3" "c.679+3A>G" "r.679_680ins[gug;679+4_680-1]" "p.Pro229Glyfs*53" "" "0000908934" "00009761" "90" "262" "0" "262" "0" "c.262dup" "r.262dup" "p.Ala88Glyfs*22" "" "0001022392" "00009761" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0001022393" "00009761" "90" "281" "0" "282" "0" "c.281_282del" "r.(?)" "p.(Ala94GlyfsTer15)" "" "0001022548" "00009761" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0001022549" "00009761" "50" "473" "0" "473" "0" "c.473G>C" "r.(?)" "p.(Arg158Pro)" "" "0001050464" "00009761" "70" "316" "0" "316" "0" "c.316del" "r.(?)" "p.(Thr106Argfs*145)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000300887" "0000663787" "0000429404" "0000908877" "0000429404" "0000908934" "0000462805" "0001022392" "0000462805" "0001022548" "0000462806" "0001022393" "0000462806" "0001022549"