### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SEPHS1) # 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}}" "SEPHS1" "selenophosphate synthetase 1" "10" "p14" "unknown" "NC_000010.10" "UD_132319294286" "" "https://www.LOVD.nl/SEPHS1" "" "1" "19685" "22929" "600902" "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/SEPHS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-04-29 17:33:16" "00006" "2024-05-02 19:11:24" ## 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}}" "00018664" "SEPHS1" "transcript variant 1" "003" "NM_012247.4" "" "NP_036379.2" "" "" "" "-377" "2883" "1179" "13390298" "13359438" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SEPHS1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00449669" "" "" "" "1" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Pat1" "00449670" "" "" "" "1" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Pat2" "00449671" "" "" "" "1" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "patient, parents not available" "" "" "" "" "0" "" "" "" "Pat3" "00449672" "" "" "" "1" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Pat4" "00449673" "" "" "" "1" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Pat5" "00449674" "" "" "" "1" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Pat6" "00449675" "" "" "" "2" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "2-generation family, 2 affected sibs, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "FamPat7" "00449676" "" "" "00449675" "1" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "sib" "" "" "" "" "0" "" "" "" "FamPat8" "00449677" "" "" "" "1" "" "00006" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "Pat9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00449669" "05611" "00449670" "05611" "00449671" "05611" "00449672" "05611" "00449673" "05611" "00449674" "05611" "00449675" "05611" "00449676" "05611" "00449677" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000338843" "05611" "00449669" "00006" "Isolated (sporadic)" "2y6m" "see paper; ..., developmental delay; hypotonia and/or muscle weakness; no other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (eyes, cupped, asymmetric, low set, hypoplastic ears with bilateral preauricular pits, broad nasal root, ankyloglossia); no endocrine features; respiratory features; ophthalmologic features; no cardiac features; gastrointestinal features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000338844" "05611" "00449670" "00006" "Isolated (sporadic)" "1y11m" "see paper; ..., developmental delay; no intellectual disability; hypotonia and/or muscle weakness; no other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (,ankyloglossia); endocrine features; no respiratory features; no ophthalmologic features; no cardiac features; no gastrointestinal features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000338845" "05611" "00449671" "00006" "Unknown" "8y" "see paper; ..., developmental delay; intellectual disability; hypotonia and/or muscle weakness; no MRI brain anomalies; other neurologic findings; no history of poor height growth; no history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (deep set eyes, dark and thick eyelashes, horizontal palpebral fissures, small, cupped ears, small widely spaced teeth); respiratory features; no ophthalmologic features; no cardiac features; gastrointestinal features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000338846" "05611" "00449672" "00006" "Isolated (sporadic)" "11y" "see paper; ..., developmental delay; no hypotonia and/or muscle weakness; no MRI brain anomalies; no other neurologic findings; history of poor height growth; history of poor weight gain; no feeding difficulties; dysmorphic craniofacial features (mildly dysplastic, thick helix, Stahl\'s ear, slightly prominent nose, mild bifid uvula); endocrine features; respiratory features; no cardiac features; gastrointestinal features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000338847" "05611" "00449673" "00006" "Isolated (sporadic)" "16y" "see paper; ..., developmental delay; intellectual disability; neurobehavioral diagnoses; hypotonia and/or muscle weakness; no MRI brain anomalies; other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (heavy eyebrows with lateral flare, small ears, poor development superior helix, prominent nasal bridge, nasal turbinate reduction, ankyloglossia, thin vermillion); endocrine features; respiratory features; ophthalmologic features; cardiac features; no gastrointestinal features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000338848" "05611" "00449674" "00006" "Isolated (sporadic)" "7y8m" "see paper; ..., developmental delay; possible intellectual disability; neurobehavioral diagnoses; hypotonia and/or muscle weakness; other neurologic findings; no history of poor height growth; no history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (long eyelashes, ptosis, low set, cupped ears, fleshy helices, overhanging columella, abnormal philtrum, thin lips); no respiratory features; ophthalmologic features; no gastrointestinal features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000338849" "05611" "00449675" "00006" "Isolated (sporadic)" "2d" "see paper; ..., hypotonia and/or muscle weakness; no history of poor height growth; endocrine features; respiratory features; cardiac features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000338850" "05611" "00449676" "00006" "Isolated (sporadic)" "3y6m" "see paper; ..., developmental delay; intellectual disability; no MRI brain anomalies; no history of poor height growth; no history of poor weight gain; endocrine features; respiratory features; cardiac features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000338851" "05611" "00449677" "00006" "Isolated (sporadic)" "4y" "see paper; ..., developmental delay; possible intellectual disability; no neurobehavioral diagnoses; hypotonia and/or muscle weakness; no MRI brain anomalies; no other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (mildly arched eyebrows with long eyelashes, entropion, bilateral ptosis requiring surgery, mildly bulbous nasal tip, ankyloglossia); no endocrine features; no respiratory features; ophthalmologic features; no cardiac features" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000451260" "00449669" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451261" "00449670" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451262" "00449671" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451263" "00449672" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451264" "00449673" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451265" "00449674" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451266" "00449675" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451267" "00449676" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451268" "00449677" "1" "00006" "00006" "2024-04-29 17:32:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "0000985088" "0" "90" "10" "13361210" "13361210" "subst" "0" "00006" "SEPHS1_000002" "g.13361210G>A" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "" "De novo" "" "" "0" "" "" "g.13319210G>A" "SCV002103293 .1" "pathogenic (dominant)" "" "0000985089" "0" "90" "10" "13361210" "13361210" "subst" "0" "00006" "SEPHS1_000002" "g.13361210G>A" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "" "De novo" "" "" "0" "" "" "g.13319210G>A" "SCV002103293 .1" "pathogenic (dominant)" "" "0000985090" "0" "90" "10" "13361210" "13361210" "subst" "0" "00006" "SEPHS1_000002" "g.13361210G>A" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "parents not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.13319210G>A" "SCV002103293 .1" "pathogenic (dominant)" "" "0000985091" "0" "90" "10" "13361209" "13361209" "subst" "0" "00006" "SEPHS1_000001" "g.13361209C>T" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "" "De novo" "" "" "0" "" "" "g.13319209C>T" "SCV002103295.1" "pathogenic (dominant)" "" "0000985092" "0" "90" "10" "13361209" "13361209" "subst" "0" "00006" "SEPHS1_000001" "g.13361209C>T" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "" "De novo" "" "" "0" "" "" "g.13319209C>T" "SCV002103295.1" "pathogenic (dominant)" "" "0000985093" "0" "90" "10" "13361209" "13361209" "subst" "0" "00006" "SEPHS1_000001" "g.13361209C>T" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "" "De novo" "" "" "0" "" "" "g.13319209C>T" "SCV002103295.1" "pathogenic (dominant)" "" "0000985094" "0" "90" "10" "13361210" "13361210" "subst" "0" "00006" "SEPHS1_000003" "g.13361210G>C" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "possible germline mosaicism parent" "De novo" "" "" "0" "" "" "g.13319210G>C" "SCV002103294.2" "pathogenic (dominant)" "" "0000985095" "0" "90" "10" "13361210" "13361210" "subst" "0" "00006" "SEPHS1_000003" "g.13361210G>C" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "possible germline mosaicism parent" "De novo" "" "" "0" "" "" "g.13319210G>C" "SCV002103294.2" "pathogenic (dominant)" "" "0000985096" "0" "90" "10" "13361267" "13361267" "subst" "0" "00006" "SEPHS1_000004" "g.13361267A>C" "" "{PMID:Mullegama 2024:38531365}, {DOI:Mullegama 2024:10.1016/j.ajhg.2024.02.016}" "" "" "" "De novo" "" "" "0" "" "" "g.13319267A>C" "SCV002103296.1" "pathogenic (dominant)" "" ## 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 SEPHS1 ## 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}}" "0000985088" "00018664" "90" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Trp)" "9" "0000985089" "00018664" "90" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Trp)" "9" "0000985090" "00018664" "90" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Trp)" "9" "0000985091" "00018664" "90" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "9" "0000985092" "00018664" "90" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "9" "0000985093" "00018664" "90" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371Gln)" "9" "0000985094" "00018664" "90" "1111" "0" "1111" "0" "c.1111C>G" "r.(?)" "p.(Arg371Gly)" "9" "0000985095" "00018664" "90" "1111" "0" "1111" "0" "c.1111C>G" "r.(?)" "p.(Arg371Gly)" "9" "0000985096" "00018664" "90" "1054" "0" "1054" "0" "c.1054T>G" "r.(?)" "p.(Trp352Gly)" "9" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000451260" "0000985088" "0000451261" "0000985089" "0000451262" "0000985090" "0000451263" "0000985091" "0000451264" "0000985092" "0000451265" "0000985093" "0000451266" "0000985094" "0000451267" "0000985095" "0000451268" "0000985096"