### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM175) # 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}}" "TMEM175" "transmembrane protein 175" "4" "p16.3" "unknown" "NC_000004.11" "UD_132437302431" "" "https://www.LOVD.nl/TMEM175" "" "1" "28709" "84286" "616660" "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/TMEM175_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-24 11:31:28" "00000" "2025-05-05 21:14:00" ## 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}}" "00021412" "TMEM175" "transmembrane protein 175" "001" "NM_032326.2" "" "NP_115702.1" "" "" "" "-98" "1675" "1515" "926262" "952444" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03475" "HCAD" "Hirschsprung disease, cardiac defects, autonomic dysfunction (HCAD)" "AD" "613870" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00050680" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00133234" "" "" "" "1" "" "02312" "" "" "M" "" "Hong Kong" "" "0" "" "" "" "HK9C" "00438681" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0674" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00050680" "00198" "00133234" "03475" "00438681" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03475, 06906 ## Count = 2 "{{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}}" "0000037292" "00198" "00050680" "00006" "Unknown" "" "intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000328584" "06906" "00438681" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## 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}}" "0000050625" "00050680" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000134068" "00133234" "1" "02312" "02312" "2017-11-14 08:39:34" "" "" "DGGE" "DNA" "" "" "0000440163" "00438681" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000134068" "A1BG" ## 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}}" "0000079605" "0" "90" "4" "71552" "3375637" "del" "0" "00006" "IDUA_000000" "g.71552_3375637del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000223784" "0" "70" "4" "952275" "952275" "subst" "0" "02312" "TMEM175_000001" "g.952275C>T" "" "" "" "NM_001297423.1:c.1260C>T" "" "De novo" "" "" "0" "" "" "g.958487C>T" "" "likely pathogenic" "" "0000329783" "0" "50" "4" "949548" "949548" "subst" "8.16233E-6" "01804" "DGKQ_000001" "g.949548A>G" "" "" "" "TMEM175(NM_032326.2):c.712A>G (p.(Arg238Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.955760A>G" "" "VUS" "" "0000523566" "0" "50" "4" "944227" "944227" "subst" "4.0624E-6" "01804" "TMEM175_000002" "g.944227C>T" "" "" "" "TMEM175(NM_032326.2):c.211C>T (p.(Gln71Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.950439C>T" "" "VUS" "" "0000655209" "0" "50" "4" "956931" "956931" "subst" "0" "01804" "DGKQ_000004" "g.956931G>A" "" "" "" "DGKQ(NM_001347.3):c.1882C>T (p.(Pro628Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.963143G>A" "" "VUS" "" "0000677339" "0" "50" "4" "955534" "955534" "subst" "0" "01943" "DGKQ_000005" "g.955534C>A" "" "" "" "DGKQ(NM_001347.4):c.2404G>T (p.E802*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936459" "0" "50" "4" "952129" "952129" "subst" "0" "00006" "TMEM175_000003" "g.952129G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_032326:c.G1360A (A454T)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000994508" "0" "30" "4" "956245" "956245" "subst" "7.76908E-5" "01804" "DGKQ_000010" "g.956245G>A" "" "" "" "DGKQ(NM_001347.3):c.2192C>T (p.(Thr731Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034735" "0" "50" "4" "947013" "947013" "subst" "6.93187E-5" "01804" "TMEM175_000004" "g.947013C>G" "" "" "" "TMEM175(NM_032326.4):c.498C>G (p.(His166Gln))" "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 TMEM175 ## 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}}" "0000079605" "00021412" "00" "-854808" "0" "2424868" "0" "c.-854808_*2423353del" "r.0?" "p.0?" "" "0000223784" "00021412" "70" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(Ala502=)" "11" "0000329783" "00021412" "50" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Arg238Gly)" "" "0000523566" "00021412" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Gln71Ter)" "" "0000655209" "00021412" "50" "6162" "0" "6162" "0" "c.*4647G>A" "r.(=)" "p.(=)" "" "0000677339" "00021412" "50" "4765" "0" "4765" "0" "c.*3250C>A" "r.(=)" "p.(=)" "" "0000936459" "00021412" "50" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "0000994508" "00021412" "30" "5476" "0" "5476" "0" "c.*3961G>A" "r.(=)" "p.(=)" "" "0001034735" "00021412" "50" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(His166Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000050625" "0000079605" "0000134068" "0000223784" "0000440163" "0000936459"