### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCLT1) # 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}}" "SCLT1" "sodium channel and clathrin linker 1" "4" "q28.2" "unknown" "NC_000004.11" "UD_132610795395" "" "https://www.LOVD.nl/SCLT1" "" "1" "26406" "132320" "611399" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SCLT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-16 15:53:14" "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}}" "00018509" "SCLT1" "sodium channel and clathrin linker 1" "001" "NM_144643.2" "" "NP_653244.2" "" "" "" "-506" "2547" "2067" "130014764" "129805152" "" "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" "00263" "OFD9" "orofaciodigital syndrome, type IX (OFD-9)" "" "258865" "" "" "" "00006" "2013-10-31 13:51:12" "00006" "2021-12-10 21:51:32" "00356" "MCOP" "microphthalmia (MCOP)" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2015-12-07 07:11:25" "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 = 8 "{{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}}" "00003131" "" "" "" "1" "" "00549" "{PMID:Adly 2014:24285566}, {DOI:Adly 2014:10.1002/humu.22477}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "00y03m" "0" "" "" "Arab" "24285566-Fam2PatIV2" "00105025" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "F" "" "Argentina" "" "0" "" "" "" "62ORG1" "00301727" "" "" "" "2" "" "00006" "{PMID:Maddirevula 2019:30237576}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents/relatives" "" "" "" "" "0" "" "" "" "17DG1005" "00332122" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "yes" "Saudi Arabia" "" "0" "" "" "" "F50‐M" "00447080" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-671" "00447637" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "UD-118" "00447691" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-73" "00447698" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-763" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00003131" "00263" "00105025" "04214" "00301727" "00198" "00332122" "00356" "00447080" "00198" "00447637" "00198" "00447691" "00198" "00447698" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00263, 00356, 04214 ## Count = 8 "{{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}}" "0000001951" "00263" "00003131" "00549" "Isolated (sporadic)" "" "severe midline cleft lip/palate, microcephaly, choanal atresia, severe coloboma, congenital heart disease (ASD, VSD), micropenis, abnormal inner ear structures; brain MRI pachygyria, absent corpus callosum; required oxygen supplementation untill 2m, severe respiratory tract infection; cardiorespiratory arrest , died at 3m" "" "" "" "" "" "" "" "" "" "" "" "0000082916" "04214" "00105025" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000228825" "00198" "00301727" "00006" "Familial, autosomal recessive" "" "congenital panhypopituitarism; hormonal deficiency affecting only GH and Thyroid; same radiological abnormalities (hypoplastic anterior pituitary with shallow sella turcica ectopic posterior lobe, and hypothalamic hamartoma); no history of developmental delay or syndromic features on evaluation" "" "" "" "" "" "" "" "" "" "" "" "0000250313" "00356" "00332122" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" "" "0000336279" "00198" "00447080" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336836" "00198" "00447637" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" "" "0000336890" "00198" "00447691" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336897" "00198" "00447698" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003048" "00003131" "1" "00549" "00549" "2013-10-30 19:58:25" "00006" "2013-11-01 16:33:33" "arraySNP;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000105498" "00105025" "1" "01244" "01244" "2017-06-15 15:07:56" "" "" "SEQ-NG" "DNA" "Whole blood" "" "0000302851" "00301727" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000333342" "00332122" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000448657" "00447080" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449214" "00447637" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449268" "00447691" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449275" "00447698" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000003048" "SCLT1" "0000302851" "SCLT1" "0000333342" "SCLT1" ## 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 = 22 "{{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}}" "0000021619" "3" "95" "4" "129960194" "129960194" "subst" "0" "00549" "SCLT1_000001" "g.129960194A>G" "" "{PMID:Adly 2014:24285566}, {DOI:Adly 2014:10.1002/humu.22477}" "" "" "RNA shows no NMD; not in 250 exomes nor 192 control chromosomes" "Germline" "yes" "" "0" "" "" "g.129039039A>G" "" "pathogenic" "" "0000170933" "0" "70" "4" "129886475" "129886475" "subst" "1.6417E-5" "01244" "SCLT1_000003" "g.129886475T>A" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128965320T>A" "" "pathogenic" "ACMG" "0000170934" "0" "70" "4" "129886424" "129886424" "subst" "3.2514E-5" "01244" "SCLT1_000002" "g.129886424C>T" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128965269C>T" "" "VUS" "ACMG" "0000330126" "0" "30" "4" "129864275" "129864275" "subst" "0.00963702" "01804" "SCLT1_000004" "g.129864275C>T" "" "" "" "SCLT1(NM_144643.2):c.1508G>A (p.(Arg503Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128943120C>T" "" "likely benign" "" "0000521672" "0" "50" "4" "129812279" "129812279" "subst" "6.53627E-5" "01943" "SCLT1_000007" "g.129812279G>C" "" "" "" "SCLT1(NM_144643.3):c.1843C>G (p.R615G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128891124G>C" "" "VUS" "" "0000521674" "0" "30" "4" "129869648" "129869648" "dup" "0" "01804" "SCLT1_000009" "g.129869648dup" "" "" "" "SCLT1(NM_144643.2):c.1293+7dupA (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128948493dup" "" "likely benign" "" "0000666208" "3" "90" "4" "129960194" "129960194" "subst" "0" "00006" "SCLT1_000001" "g.129960194A>G" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2, PS1, PP1" "Germline" "" "" "0" "" "" "g.129039039A>G" "" "pathogenic (recessive)" "ACMG" "0000730913" "3" "90" "4" "129960194" "129960194" "subst" "0" "00000" "SCLT1_000001" "g.129960194A>G" "" "{PMID:Patel 2017:29450879}" "" "" "" "Germline" "" "" "0" "" "" "g.129039039A>G" "" "pathogenic (recessive)" "" "0000801517" "0" "50" "4" "129920909" "129920909" "subst" "0" "02327" "SCLT1_000012" "g.129920909T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859245" "0" "30" "4" "129867228" "129867228" "subst" "0.00242726" "02326" "SCLT1_000005" "g.129867228C>T" "" "" "" "SCLT1(NM_144643.4):c.1373G>A (p.R458H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859246" "0" "30" "4" "129878170" "129878170" "subst" "0.00116924" "02326" "SCLT1_000013" "g.129878170A>G" "" "" "" "SCLT1(NM_144643.4):c.1146+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859247" "0" "30" "4" "129891583" "129891583" "subst" "0.00110275" "02326" "SCLT1_000014" "g.129891583C>T" "" "" "" "SCLT1(NM_144643.4):c.727G>A (p.E243K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886139" "0" "30" "4" "129869648" "129869648" "del" "0" "02326" "SCLT1_000015" "g.129869648del" "" "" "" "SCLT1(NM_144643.4):c.1293+7delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928869" "0" "30" "4" "129857893" "129857893" "subst" "0.0010267" "02326" "SCLT1_000016" "g.129857893C>T" "" "" "" "SCLT1(NM_144643.4):c.1746G>A (p.A582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928870" "0" "30" "4" "129965201" "129965201" "subst" "0.000749815" "02326" "SCLT1_000017" "g.129965201A>G" "" "" "" "SCLT1(NM_144643.4):c.108T>C (p.A36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958143" "11" "70" "4" "129867309" "129867309" "subst" "0" "00006" "SCLT1_000019" "g.129867309T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PM3, PS3" "Germline" "" "" "0" "" "" "g.128946154T>C" "" "likely pathogenic (recessive)" "ACMG" "0000958494" "21" "70" "4" "129805272" "129806749" "del" "0" "00006" "SCLT1_000018" "g.129805272_129806749del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.128884117_128885594del" "" "likely pathogenic (recessive)" "ACMG" "0000958981" "0" "50" "4" "129869695" "129869695" "subst" "3.67734E-5" "00006" "SCLT1_000020" "g.129869695G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.128948540G>A" "" "VUS" "ACMG" "0000959035" "0" "50" "4" "129913347" "129913348" "ins" "1.69047E-5" "00006" "SCLT1_000022" "g.129913347_129913348insA" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.128992192_128992193insA" "" "VUS" "ACMG" "0000959042" "0" "70" "4" "129873956" "129873956" "subst" "1.21956E-5" "00006" "SCLT1_000021" "g.129873956G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.128952801G>A" "" "likely pathogenic (recessive)" "ACMG" "0000959434" "0" "50" "4" "130003525" "130003525" "subst" "0.000102019" "00006" "SCLT1_000023" "g.130003525C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.129082370C>T" "" "VUS" "ACMG" "0001034350" "0" "30" "4" "129920817" "129920817" "subst" "0" "01804" "SCLT1_000024" "g.129920817C>A" "" "" "" "SCLT1(NM_144643.4):c.549+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SCLT1 ## Count = 22 "{{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}}" "0000021619" "00018509" "95" "290" "2" "290" "2" "c.290+2T>C" "r.235_290del" "p.Lys79Valfs*4" "5i" "0000170933" "00018509" "70" "778" "-2" "778" "-2" "c.778-2A>T" "r.spl" "p.?" "10i" "0000170934" "00018509" "70" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Arg276His)" "11" "0000330126" "00018509" "30" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Arg503Lys)" "" "0000521672" "00018509" "50" "1843" "0" "1843" "0" "c.1843C>G" "r.(?)" "p.(Arg615Gly)" "" "0000521674" "00018509" "30" "1293" "7" "1293" "7" "c.1293+7dup" "r.(=)" "p.(=)" "" "0000666208" "00018509" "90" "290" "2" "290" "2" "c.290+2T>C" "r.spl?" "p.?" "" "0000730913" "00018509" "90" "290" "2" "290" "2" "c.290+2T>C" "r.235_290del" "p.Lys79Valfs*4" "" "0000801517" "00018509" "50" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Gln156Arg)" "" "0000859245" "00018509" "30" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Arg458His)" "" "0000859246" "00018509" "30" "1146" "11" "1146" "11" "c.1146+11T>C" "r.(=)" "p.(=)" "" "0000859247" "00018509" "30" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Glu243Lys)" "" "0000886139" "00018509" "30" "1293" "7" "1293" "7" "c.1293+7del" "r.(=)" "p.(=)" "" "0000928869" "00018509" "30" "1746" "0" "1746" "0" "c.1746G>A" "r.(?)" "p.(=)" "" "0000928870" "00018509" "30" "108" "0" "108" "0" "c.108T>C" "r.(?)" "p.(=)" "" "0000958143" "00018509" "70" "1294" "-2" "1294" "-2" "c.1294-2A>G" "r.spl" "p.?" "" "0000958494" "00018509" "70" "2005" "-1052" "2430" "0" "c.2005-1052_*363del" "r.?" "p.?" "" "0000958981" "00018509" "50" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0000959035" "00018509" "50" "660" "0" "661" "0" "c.660_661insT" "r.(?)" "p.(Ile221TyrfsTer9)" "" "0000959042" "00018509" "70" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Ter)" "" "0000959434" "00018509" "50" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "" "0001034350" "00018509" "30" "549" "10" "549" "10" "c.549+10G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000003048" "0000021619" "0000105498" "0000170933" "0000105498" "0000170934" "0000302851" "0000666208" "0000333342" "0000730913" "0000448657" "0000958143" "0000448657" "0000958494" "0000449214" "0000958981" "0000449214" "0000959434" "0000449268" "0000959035" "0000449275" "0000959042"