### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TIMMDC1)
# 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}}"
"TIMMDC1"	"translocase of inner mitochondrial membrane domain containing 1"	"3"	"q13.33"	"unknown"	"NC_000003.11"	"UD_136094637340"	""	"https://www.LOVD.nl/TIMMDC1"	""	"1"	"1321"	"51300"	"615534"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/TIMMDC1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2022-12-19 19:02:13"	"00006"	"2023-02-03 19:52:29"


## 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}}"
"00021149"	"TIMMDC1"	"translocase of inner mitochondrial membrane domain containing 1"	"001"	"NM_016589.3"	""	"NP_057673.2"	""	""	""	"-213"	"1383"	"858"	"119217368"	"119243128"	""	"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"	"2016-10-22 17:54:40"
"00611"	"MC1DN"	"mitochondrial complex I deficiency, nuclear (MC1DN)"	"AR"	"252010"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04225"	"-"	"neurodegeneration"	""	""	""	""	""	"00006"	"2015-03-13 20:14:29"	""	""
"06585"	"MC1DN31"	"Mi complex I deficiency, nuclear type 31"	"AR"	"618251"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"TIMMDC1"	"00611"
"TIMMDC1"	"06585"


## 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}}"
"00034216"	""	""	""	"2"	""	"00006"	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}, {PMID:Kumar 2022:35091571}"	"3-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/sibs"	"F;M"	"yes"	""	""	"0"	""	""	"Middle East"	"family"
"00412091"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"199700"
"00428051"	""	""	""	"1"	""	"00006"	"{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Greece"	"02y06m"	"0"	""	""	""	"Pat35791"
"00428052"	""	""	""	"1"	""	"00006"	"{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	""	"01y08m"	"0"	""	""	"Africa-N"	"Pat66744"
"00428053"	""	""	""	"3"	""	"00006"	"{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}"	"2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents, 2 older siblings died due to unexplained neurodegenerative disorders with severe epilepsy"	"M"	"no"	"Germany"	""	"0"	""	""	""	"Pat96687"
"00428054"	""	""	""	"2"	""	"00006"	"{PMID:Naber 2021:33278652}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"family"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}"	"{{diseaseid}}"
"00034216"	"04225"
"00412091"	"06585"
"00428051"	"00198"
"00428052"	"00198"
"00428053"	"00198"
"00428054"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00611, 04225, 06585
## Count = 6
"{{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}}"
"0000027612"	"04225"	"00034216"	"00006"	"Isolated (sporadic)"	""	"see paper;  infantile-onset neurodegenerative disorder, predominant\r\nsensorimotor axonal neuropathy, optic atrophy, cognitive deficit"	""	""	""	""	""	""	""	""	""	""	""
"0000304107"	"06585"	"00412091"	"01164"	"Unknown"	"22y"	"(+) Intellectual disability,(+) Muscle weakness,(+) Hypoplasia of the corpus callosum,(+) Lactic acidosis,(+) Abnormal activity of mitochondrial respiratory chain"	""	""	""	""	""	""	""	""	""	""	""
"0000318998"	"00198"	"00428051"	"00006"	"Familial, autosomal recessive"	"00y30m"	"30m-died; born at term, uneventful twin pregnancy (dizygotic twins), cesarean section;, weight 2450 g, length 48 cm, OFC 33 cm; no dysmorphism, shortly after birth muscular hypotonia, poor feeding behavior; <1y-developmental delay, failure to thrive; sensorineural deafness; MRI brain enlarged ventricles, megacisterna magna; severe isolated complex I deficiency (0.16 lowest control); muscle wasting, dyskinetic movement disorder, never achieved developmental milestones, recurrent respiratory infections"	""	""	""	""	""	""	""	""	"MC1DN31"	""	""
"0000318999"	"00198"	"00428052"	"00006"	"Familial, autosomal recessive"	"01y08m"	"20m-died; normal pregnancy, delivery, birth parameters; 6m-muscular hypotonia, delayed motor milestones, nystagmus, EEG evoked visual potentials; acute episode with abnormal eye movements, myoclonus, loss of consciousness, followed by cerebellar syndrome; CT scan hypersignal basal ganglia; mildly elevated blood lactate levels; NMR brain imaging normal; 1y-profound hypotonia, cerebellar syndrome, severe dysmetria, delayed mental development, peripheral neuropathy"	""	""	""	""	""	""	""	""	"MC1DN31"	"Leigh syndrome"	""
"0000319000"	"00198"	"00428053"	"00006"	"Familial, autosomal recessive"	"04y"	"uneventful pregnancy, birth spontaneous delivery, weight 4180 g, length 57 cm, OFC 36 cm; 3m-poor feeding behaviour, muscular hypotonia, failure to thrive, developmental delay, muscle wasting; severe cognitive/language impairment, never walked; 4y-severe therapy-resistant epilepsy, MRI brain normal; two older siblings died due to unexplained neurodegenerative disorders with severe epilepsy"	""	""	""	""	""	""	""	""	"MC1DN31"	""	""
"0000319001"	"00198"	"00428054"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"MC1DN31"	"mitochondrial complex I deficiency"	""


## 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}}"
"0000034285"	"00034216"	"1"	"00006"	"00006"	"2015-03-13 20:19:55"	"00006"	"2022-12-20 10:01:40"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000413364"	"00412091"	"1"	"01164"	"01164"	"2022-06-21 16:38:15"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000429463"	"00428051"	"1"	"00006"	"00006"	"2022-12-20 09:11:06"	"00006"	"2022-12-20 09:35:43"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WGS"
"0000429464"	"00428052"	"1"	"00006"	"00006"	"2022-12-20 09:11:06"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WGS"
"0000429465"	"00428053"	"1"	"00006"	"00006"	"2022-12-20 09:11:06"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WGS"
"0000429466"	"00428054"	"1"	"00006"	"00006"	"2022-12-20 09:11:06"	"00006"	"2022-12-20 10:17:09"	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}"	"{{geneid}}"
"0000034285"	"FMNL3"
"0000034285"	"STXBP5L"
"0000034285"	"TIMMDC1"
"0000413364"	"TIMMDC1"
"0000429463"	"TIMMDC1"
"0000429464"	"TIMMDC1"
"0000429465"	"TIMMDC1"
"0000429466"	"TIMMDC1"


## 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 = 8
"{{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}}"
"0000870815"	"0"	"70"	"3"	"119232567"	"119232567"	"del"	"0"	"01164"	"TIMMDC1_000001"	"g.119232567del"	""	""	""	"596del"	"ACMG: PVS1, PM2_SUP"	"Germline"	"?"	""	"0"	""	""	"g.119513720del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000870816"	"0"	"50"	"3"	"119242496"	"119242496"	"subst"	"0"	"01164"	"TIMMDC1_000002"	"g.119242496G>T"	""	""	""	""	"ACMG: PVS1_MOD, PM2_SUP (p.Glu251 is located in last exon, NMD not expected to occur)"	"Germline"	"?"	""	""	""	""	""	""	"VUS (!)"	"ACMG"
"0000908960"	"3"	"90"	"3"	"119234712"	"119234712"	"subst"	"0"	"00006"	"TIMMDC1_000003"	"g.119234712A>G"	""	"{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}"	""	"596+2146A>G"	""	"Germline"	""	""	"0"	""	""	"g.119515865A>G"	""	"pathogenic (recessive)"	""
"0000908961"	"3"	"90"	"3"	"119234712"	"119234712"	"subst"	"0"	"00006"	"TIMMDC1_000003"	"g.119234712A>G"	""	"{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}"	""	"596+2146A>G"	""	"Germline"	""	""	"0"	""	""	"g.119515865A>G"	""	"pathogenic (recessive)"	""
"0000908962"	"3"	"90"	"3"	"119234712"	"119234712"	"subst"	"0"	"00006"	"TIMMDC1_000003"	"g.119234712A>G"	""	"{PMID:Kremer 2017:28604674}, {PMID:Yepez 2022:35379322}"	""	"596+2146A>G"	""	"Germline"	""	""	"0"	""	""	"g.119515865A>G"	""	"pathogenic (recessive)"	""
"0000908963"	"11"	"90"	"3"	"119234712"	"119234712"	"subst"	"0"	"00006"	"TIMMDC1_000003"	"g.119234712A>G"	""	"{PMID:Naber 2021:33278652}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.119515865A>G"	""	"pathogenic (recessive)"	""
"0000908964"	"3"	"90"	"3"	"119234712"	"119234712"	"subst"	"0"	"00006"	"TIMMDC1_000003"	"g.119234712A>G"	""	"{PMID:Kumar 2022:35091571}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.119515865A>G"	""	"pathogenic (recessive)"	""
"0000908965"	"21"	"90"	"3"	"119222403"	"119222403"	"subst"	"0.0000328742"	"00006"	"TIMMDC1_000004"	"g.119222403C>T"	""	"{PMID:Naber 2021:33278652}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.119503556C>T"	""	"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 TIMMDC1
## Count = 8
"{{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}}"
"0000870815"	"00021149"	"70"	"596"	"1"	"596"	"1"	"c.596+1del"	"r.spl?"	"p.(Gly199Alafs*4)"	"5i"
"0000870816"	"00021149"	"50"	"751"	"0"	"751"	"0"	"c.751G>T"	"r.(?)"	"p.(Glu251*)"	"7"
"0000908960"	"00021149"	"90"	"597"	"-1340"	"597"	"-1340"	"c.597-1340A>G"	"r.[596_597ins[uuggug;597-1339_597-1266],596_597ins[597-1363_597-1341;g;597-1339_597-1266]]"	"p.Thr200fs"	"5i"
"0000908961"	"00021149"	"90"	"597"	"-1340"	"597"	"-1340"	"c.597-1340A>G"	"r.[596_597ins[uuggug;597-1339_597-1266],596_597ins[597-1363_597-1341;g;597-1339_597-1266]]"	"p.Thr200fs"	"5i"
"0000908962"	"00021149"	"90"	"597"	"-1340"	"597"	"-1340"	"c.597-1340A>G"	"r.[596_597ins[uuggug;597-1339_597-1266],596_597ins[597-1363_597-1341;g;597-1339_597-1266]]"	"p.Thr200fs"	"5i"
"0000908963"	"00021149"	"90"	"597"	"-1340"	"597"	"-1340"	"c.597-1340A>G"	"r.spl"	"p.?"	"5i"
"0000908964"	"00021149"	"90"	"597"	"-1340"	"597"	"-1340"	"c.597-1340A>G"	"r.[596_597ins[uuggug;597-1339_597-1266],596_597ins[597-1363_597-1341;g;597-1339_597-1266]]"	"p.Thr200fs"	"5i"
"0000908965"	"00021149"	"90"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Arg129*)"	"3"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}"	"{{variantid}}"
"0000034285"	"0000908964"
"0000413364"	"0000870815"
"0000413364"	"0000870816"
"0000429463"	"0000908960"
"0000429464"	"0000908961"
"0000429465"	"0000908962"
"0000429466"	"0000908963"
"0000429466"	"0000908965"