### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCTD3) # 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}}" "KCTD3" "potassium channel tetramerisation domain containing 3" "1" "q41" "unknown" "NG_047148.1" "UD_132319249743" "" "https://www.LOVD.nl/KCTD3" "" "1" "21305" "51133" "613272" "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/KCTD3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-22 20:22:41" "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}}" "00010432" "KCTD3" "potassium channel tetramerisation domain containing 3" "001" "NM_016121.3" "" "NP_057205.2" "" "" "" "-294" "3637" "2448" "215740735" "215795149" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00080824" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00225699" "" "" "" "4" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam13DG2274" "00361614" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "no" "Saudi Arabia" "" "0" "" "" "" "13DG2274" "00387391" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "F" "" "China" "" "0" "" "" "" "11" "00387397" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "F" "" "China" "" "0" "" "" "" "17" "00387401" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "M" "" "China" "" "0" "" "" "" "21" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00080824" "00139" "00225699" "00198" "00361614" "00139" "00387391" "04214" "00387397" "04214" "00387401" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04214 ## 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}}" "0000060393" "00139" "00080824" "01758" "Familial, autosomal recessive" "" "Severe psychomotor retardation, seizures and cerebellar hypoplasia (PMID:25558065)" "" "" "" "" "" "" "" "" "" "" "" "0000170805" "00198" "00225699" "00006" "Familial, autosomal recessive" "" "see paper; …, severe psychomotor retardation, seizure, and cerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000257019" "00139" "00361614" "00006" "Familial, autosomal recessive" "2y" "not syndromic; global developmental delay and seizures" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000280954" "04214" "00387391" "00000" "Familial, autosomal recessive" "56y" "posterior subcapsular cataract, peripheral choroidal atrophy, negative family history, BCVA OD/OS: FC/HM, hearing loss" "30y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000280960" "04214" "00387397" "00000" "Familial, autosomal recessive" "38y" "no lens opacity, peripheral choroidal atrophy, negative family history, BCVA OD/OS: 0.15/0.5" "25y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000280964" "04214" "00387401" "00000" "Familial, autosomal recessive" "36y" "no lens opacity, peripheral choroidal atrophy, negative family history, BCVA OD/OS: 0.05/0.05, red–green color blindne" "5y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" ## 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}}" "0000080936" "00080824" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226766" "00225699" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362842" "00361614" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000388617" "00387391" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000388623" "00387397" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000388627" "00387401" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000080936" "KCTD3" "0000226766" "KCTD3" "0000362842" "KCTD3" ## 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 = 19 "{{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}}" "0000130022" "3" "70" "1" "215775441" "215775478" "del" "0" "01758" "KCTD3_000001" "g.215775441_215775478del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.215602099_215602136del" "" "likely pathogenic" "ACMG" "0000339635" "0" "10" "1" "215799210" "215799210" "subst" "0.0114723" "02327" "USH2A_000243" "g.215799210A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215625868A>G" "" "benign" "" "0000343109" "0" "50" "1" "215747444" "215747444" "subst" "8.15295E-6" "02327" "KCTD3_000003" "g.215747444C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215574101C>T" "" "VUS" "" "0000346131" "0" "50" "1" "215747426" "215747426" "subst" "2.44451E-5" "02327" "KCTD3_000002" "g.215747426G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215574083G>A" "" "VUS" "" "0000349071" "0" "10" "1" "215799170" "215799170" "subst" "0.0126893" "02327" "USH2A_000281" "g.215799170T>C" "" "" "" "USH2A(NM_206933.2):c.15562A>G (p.(Ser5188Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.215625828T>C" "" "benign" "" "0000459783" "3" "90" "1" "215775441" "215775478" "del" "0" "00006" "KCTD3_000001" "g.215775441_215775478del" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.215602099_215602136del" "" "likely pathogenic (recessive)" "" "0000505143" "0" "30" "1" "215799170" "215799170" "subst" "0.0126893" "01804" "USH2A_000281" "g.215799170T>C" "" "" "" "USH2A(NM_206933.2):c.15562A>G (p.(Ser5188Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215625828T>C" "" "likely benign" "" "0000620495" "0" "30" "1" "215799194" "215799194" "subst" "0" "01943" "USH2A_001685" "g.215799194G>A" "" "" "" "USH2A(NM_206933.2):c.15538C>T (p.L5180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.215625852G>A" "" "likely benign" "" "0000717139" "0" "50" "1" "215799182" "215799182" "subst" "0" "01943" "USH2A_001834" "g.215799182T>G" "" "" "" "USH2A(NM_206933.2):c.15550A>C (p.I5184L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763216" "3" "90" "1" "215775441" "215775478" "del" "0" "00006" "KCTD3_000001" "g.215775441_215775478del" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.215602099_215602136del" "" "pathogenic" "" "0000799069" "0" "30" "1" "215777640" "215777640" "subst" "0" "01943" "KCTD3_000004" "g.215777640A>G" "" "" "" "KCTD3(NM_001319295.1):c.999A>G (p.V333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799070" "0" "50" "1" "215792397" "215792397" "subst" "0" "01943" "USH2A_002181" "g.215792397A>C" "" "" "" "KCTD3(NM_001319295.1):c.1426A>C (p.K476Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817321" "0" "50" "1" "215782181" "215782181" "subst" "0" "00000" "USH2A_002245" "g.215782181T>C" "" "{PMID:Sun 2020:32100970}" "" "USH2A c.10601A > G, p.Tyr3534Cys, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.215782181T>C" "" "VUS" "ACMG" "0000817335" "0" "50" "1" "215779952" "215779952" "subst" "0" "00000" "USH2A_002141" "g.215779952C>G" "" "{PMID:Sun 2020:32100970}" "" "USH2A c.10830G > C, p.Trp3610Cys, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.215671166C>G" "" "VUS" "ACMG" "0000817348" "0" "70" "1" "215759735" "215759735" "subst" "0" "00000" "USH2A_000433" "g.215759735C>T" "" "{PMID:Sun 2020:32100970}" "" "USH2A c.11156G > A, p.Arg3719His, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.215759735C>T" "" "likely pathogenic" "ACMG" "0000848514" "0" "30" "1" "215759981" "215759981" "subst" "0.00156385" "02325" "KCTD3_000005" "g.215759981G>A" "" "" "" "KCTD3(NM_016121.5):c.770G>A (p.S257N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883106" "0" "50" "1" "215792631" "215792633" "dup" "0" "02325" "USH2A_002721" "g.215792631_215792633dup" "" "" "" "KCTD3(NM_016121.5):c.1884_1886dupTAG (p.S629dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923068" "0" "30" "1" "215749246" "215749246" "subst" "0.00362962" "02326" "KCTD3_000006" "g.215749246A>C" "" "" "" "KCTD3(NM_016121.5):c.186A>C (p.I62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031650" "0" "50" "1" "215777500" "215777500" "subst" "4.0823E-6" "01804" "KCTD3_000007" "g.215777500G>A" "" "" "" "KCTD3(NM_016121.5):c.1165G>A (p.(Ala389Thr))" "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 KCTD3 ## Count = 19 "{{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}}" "0000130022" "00010432" "70" "1036" "0" "1073" "0" "c.1036_1073del" "r.(?)" "p.(Pro346Thrfs*4)" "" "0000339635" "00010432" "10" "7698" "0" "7698" "0" "c.*5250A>G" "r.(=)" "p.(=)" "" "0000343109" "00010432" "50" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Ter)" "" "0000346131" "00010432" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Gly50Arg)" "" "0000349071" "00010432" "10" "7658" "0" "7658" "0" "c.*5210T>C" "r.(=)" "p.(=)" "" "0000459783" "00010432" "90" "1036" "0" "1073" "0" "c.1036_1073del" "r.(?)" "p.(Pro346Thrfs*4)" "" "0000505143" "00010432" "30" "7658" "0" "7658" "0" "c.*5210T>C" "r.(=)" "p.(=)" "" "0000620495" "00010432" "30" "7682" "0" "7682" "0" "c.*5234G>A" "r.(=)" "p.(=)" "" "0000717139" "00010432" "50" "7670" "0" "7670" "0" "c.*5222T>G" "r.(=)" "p.(=)" "" "0000763216" "00010432" "90" "1036" "0" "1073" "0" "c.1036_1073del" "r.(?)" "p.(Pro346Thrfs*4)" "" "0000799069" "00010432" "30" "1305" "0" "1305" "0" "c.1305A>G" "r.(?)" "p.(Val435=)" "" "0000799070" "00010432" "50" "1732" "0" "1732" "0" "c.1732A>C" "r.(?)" "p.(Lys578Gln)" "" "0000817321" "00010432" "50" "1465" "667" "1465" "667" "c.1465+667T>C" "r.(=)" "p.(=)" "" "0000817335" "00010432" "50" "1310" "-1407" "1310" "-1407" "c.1310-1407C>G" "" "" "" "0000817348" "00010432" "70" "627" "-103" "627" "-103" "c.627-103C>T" "" "" "" "0000848514" "00010432" "30" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Ser257Asn)" "" "0000883106" "00010432" "50" "1884" "0" "1886" "0" "c.1884_1886dup" "r.(?)" "p.(Ser629dup)" "" "0000923068" "00010432" "30" "186" "0" "186" "0" "c.186A>C" "r.(?)" "p.(Ile62=)" "" "0001031650" "00010432" "50" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Ala389Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000080936" "0000130022" "0000226766" "0000459783" "0000362842" "0000763216" "0000388617" "0000817335" "0000388623" "0000817321" "0000388627" "0000817348"