### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNRC6A) # 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}}" "TNRC6A" "trinucleotide repeat containing 6A" "16" "p11.2" "unknown" "NC_000016.9" "UD_132378505344" "" "https://www.LOVD.nl/TNRC6A" "" "1" "11969" "27327" "610739" "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/TNRC6A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-19 16:35:13" "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}}" "00021606" "TNRC6A" "trinucleotide repeat containing 6A" "001" "NM_014494.2" "" "NP_055309.2" "" "" "" "-114" "8309" "5889" "24741049" "24837548" "" "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}}" "00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" "05589" "FAME6;FMCTE6" "epilepsy, myoclonic, familial adult, type 6 (FAME6, FMCTE6)" "AD" "618074" "" "" "" "00006" "2019-04-10 21:12:34" "00006" "2019-12-19 19:19:15" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TNRC6A" "05408" "TNRC6A" "05589" ## 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}}" "00050458" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00271467" "" "" "" "5" "" "00006" "{PMID:Ishiura 2018:29507423}" "3-generation family, 5 affected (4F, 1M)" "F;M" "no" "Japan" "" "0" "" "" "" "F9283" "00311894" "" "" "" "1" "" "00006" "{PMID:Bunn 2015:25817014}" "" "" "" "New Zealand" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00050458" "00198" "00271467" "05408" "00311894" "00180" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00180, 00198, 05408, 05589 ## Count = 3 "{{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}}" "0000037070" "00198" "00050458" "00006" "Isolated (sporadic)" "" "microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "0000208062" "05408" "00271467" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "FAME6" "familial cortical myoclonic tremor" "" "0000237143" "00180" "00311894" "00006" "Isolated (sporadic)" "" "hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; no cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe" "" "" "" "" "" "" "" "" "DRS2" "Robinow syndrome" "" ## 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}}" "0000050403" "00050458" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000272621" "00271467" "1" "00006" "00006" "2019-12-19 16:40:18" "" "" "SEQ" "DNA" "" "" "0000313066" "00311894" "1" "00006" "00006" "2020-09-30 09:24:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000272621" "TNRC6A" "0000313066" "DVL1" ## 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}}" "0000079383" "0" "90" "16" "21530207" "29332245" "del" "0" "00006" "CLN3_000009" "g.21530207_29332245del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.21518886_29320924del" "" "pathogenic" "" "0000324672" "0" "50" "16" "24800675" "24800675" "subst" "2.43651E-5" "01804" "TNRC6A_000001" "g.24800675G>A" "" "" "" "TNRC6A(NM_014494.2):c.712G>A (p.(Ala238Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24789354G>A" "" "VUS" "" "0000324673" "0" "50" "16" "24800678" "24800678" "subst" "2.43651E-5" "01804" "TNRC6A_000002" "g.24800678T>A" "" "" "" "TNRC6A(NM_014494.2):c.715T>A (p.(Trp239Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24789357T>A" "" "VUS" "" "0000557663" "0" "50" "16" "24801564" "24801565" "del" "0" "01804" "TNRC6A_000003" "g.24801564_24801565del" "" "" "" "TNRC6A(NM_014494.2):c.1600_1601del (p.(Cys534PhefsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24790243_24790244del" "" "VUS" "" "0000626555" "1" "90" "16" "24624761" "24624850" "" "0" "00006" "TNRC6A_000004" "g.24624761_24624850TTTTA[22]TTTCA[exp]TTTTA[exp]" "" "{PMID:Ishiura 2018:29507423}" "" "" "expansion around 5.6 kb" "Germline" "yes" "" "0" "" "" "g.24613440_24613529TTTTA[22]TTTCA[exp]TTTTA[exp]" "" "pathogenic (dominant)" "" "0000694808" "0" "30" "16" "24802716" "24802716" "subst" "0" "00006" "TNRC6A_000005" "g.24802716C>T" "" "{PMID:Bunn 2015:25817014}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely benign" "" "0000950625" "0" "50" "16" "24816030" "24816030" "subst" "0" "02325" "TNRC6A_000006" "g.24816030G>A" "" "" "" "TNRC6A(NM_014494.4):c.3842G>A (p.G1281D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002122" "0" "50" "16" "24802365" "24802365" "del" "0" "01804" "TNRC6A_000007" "g.24802365del" "" "" "" "TNRC6A(NM_014494.2):c.2402delA (p.(Gln801fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055499" "0" "50" "16" "24741172" "24741172" "subst" "0" "01804" "TNRC6A_000008" "g.24741172G>A" "" "" "" "TNRC6A(NM_014494.4):c.5+5G>A" "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 TNRC6A ## 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}}" "{{VariantOnTranscript/Haplotype}}" "0000079383" "00021606" "00" "-3210956" "0" "4503006" "0" "c.-3210956_*4497117del" "r.0?" "p.0?" "" "" "0000324672" "00021606" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Ala238Thr)" "" "" "0000324673" "00021606" "50" "715" "0" "715" "0" "c.715T>A" "r.(?)" "p.(Trp239Arg)" "" "" "0000557663" "00021606" "50" "1601" "0" "1602" "0" "c.1601_1602del" "r.(?)" "p.(Cys534PhefsTer4)" "" "" "0000626555" "00021606" "90" "0" "0" "0" "0" "c.-116402_-116313TAAAA[exp]TGAAA[exp]TAAAA[22]" "r.(=)" "p.(=)" "_1" "TTTTA[exp]TTTCA[exp]TTTTA[exp]" "0000694808" "00021606" "30" "2753" "0" "2753" "0" "c.2753C>T" "r.(?)" "p.(Pro918Leu)" "" "" "0000950625" "00021606" "50" "3842" "0" "3842" "0" "c.3842G>A" "r.(?)" "p.(Gly1281Asp)" "" "" "0001002122" "00021606" "50" "2402" "0" "2402" "0" "c.2402del" "r.(?)" "p.(Gln801Argfs*102)" "" "" "0001055499" "00021606" "50" "5" "5" "5" "5" "c.5+5G>A" "r.spl?" "p.?" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000050403" "0000079383" "0000272621" "0000626555" "0000313066" "0000694808"