### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SNF8) # 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}}" "SNF8" "SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)" "17" "q21.32" "unknown" "NC_000017.10" "UD_132378626668" "" "https://www.LOVD.nl/SNF8" "" "1" "17028" "11267" "610904" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-03-04 20:31:46" "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}}" "00019540" "SNF8" "SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)" "001" "NM_007241.2" "" "NP_009172.2" "" "" "" "-58" "1156" "777" "47022154" "47007458" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "07186" "DEE115" "encephalopathy, developmental and epileptic, type 115" "AR" "620783" "" "" "" "00006" "2025-09-30 18:08:53" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SNF8" "07186" ## 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}}" "00448373" "" "" "" "2" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "family, 2 affected sisters, unaffected heterozygous parents" "F" "" "Germany" "8m" "0" "" "" "" "FamAPatII2" "00448374" "" "" "00448373" "1" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "sister" "F" "" "Germany" "3m" "0" "" "" "" "FamAPatII3" "00448375" "" "" "" "1" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "family, 1 affected, unaffected heterozygous parents" "M" "" "Germany" ">4y6m" "0" "" "" "" "FamBPatII1" "00448376" "" "" "" "2" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "family, affected fetus/sister, unaffected heterozygous parents" "M" "" "Israel" "<0d" "0" "" "" "" "FamCPatII1" "00448377" "" "" "00448376" "1" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "sister" "F" "" "Israel" "54d" "0" "" "" "" "FamCPatII2" "00448378" "" "" "" "1" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "family, 1 affected, unaffected heterozygous parents" "M" "" "Italy" ">18y" "0" "" "" "" "FamDPatII2" "00448379" "" "" "" "2" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "family, 2 affected brothers, unaffected heterozygous parents" "M" "" "Italy" ">27y" "0" "" "" "" "FamEPatII1" "00448380" "" "" "00448379" "1" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "brother" "M" "" "Italy" ">17y" "0" "" "" "" "FamEPatII2" "00448381" "" "" "" "1" "" "00006" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "family, 1 affected, unaffected heterozygous parents" "F" "" "" ">4y" "0" "" "" "" "FamFPatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00448373" "00198" "00448374" "00198" "00448375" "00198" "00448376" "00198" "00448377" "00198" "00448378" "00198" "00448379" "00198" "00448380" "00198" "00448381" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 07186 ## Count = 9 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000337563" "00198" "00448373" "00006" "Familial, autosomal recessive" "8m" "see paper; ..., neurodevelopmental delay, regression; seizures; dysphagia; nystagmus; MRI brain severe generalized brain atrophy, hypoplasia corpus callosum, no anterior optic pathway volume reduction, no anterior optic pathway volume reduction; EEG generalized and multifocal epileptic discharges" "<1d" "" "" "" "" "" "" "" "" "" "0000337564" "00198" "00448374" "00006" "Familial, autosomal recessive" "3m" "see paper; ..., neurodevelopmental delay; no seizures; dysphagia; MRI brain MRI brain severe generalized brain atrophy, hypoplasia corpus callosum, no anterior optic pathway volume reduction, no anterior optic pathway volume reduction; normal EEG" "<1d" "" "" "" "" "" "" "" "" "" "0000337565" "00198" "00448375" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ..., neurodevelopmental delay; seizures; dysphagia; nystagmus; MRI brain severe generalized brain atrophy, aplasia corpus callosum, no anterior optic pathway volume reduction, no anterior optic pathway volume reduction; EEG generalized and multifocal epileptic discharges" "<1d" "" "" "" "" "" "" "" "" "" "0000337566" "00198" "00448376" "00006" "Familial, autosomal recessive" "" "see paper; ..., dysgenesia corpus callosum" "" "" "" "" "" "" "" "" "" "" "0000337567" "00198" "00448377" "00006" "Familial, autosomal recessive" "" "see paper; ..., no seizures; dysphagia; optic atrophy, bilateral hypoplastic optic nerves; MRI brain severe generalized brain atrophy, aplasia corpus callosum, atrophy cerebellum, no anterior optic pathway volume reduction" "<1d" "" "" "" "" "" "" "" "" "" "0000337568" "00198" "00448378" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., no neurodevelopmental delay; intellectual disability; no seizures; no dysphagia; optic atrophy; nystagmus; MRI brain mild generalized brain atrophy, total cerebral white matter volume reduction, no anomaly corpus callosum, cerebellum cortex volume reduction, anterior optic pathway volume reduction; normal EEG, pathologic visual evoked potentials" "4y" "" "" "" "" "" "" "" "" "" "0000337569" "00198" "00448379" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., mild neurodevelopmental delay; intellectual disability; no seizures; no dysphagia; optic atrophy; nystagmus; MRI brain mild generalized brain atrophy, total cerebral white matter volume reduction, no anomaly corpus callosum, cerebellum cortex volume reduction, anterior optic pathway volume reduction; normal EEG, visual evoked potentials delayed latency and reduced amplitude" "6y" "" "" "" "" "" "" "" "" "" "0000337570" "00198" "00448380" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., mild neurodevelopmental delay; intellectual disability; no seizures; no dysphagia; optic atrophy; nystagmus; MRI brain no generalized brain atrophy, no anomaly corpus callosum, normal cerebellum, anterior optic pathway volume reduction; normal EEG, visual evoked potentials delayed latency and reduced amplitude" "7y" "" "" "" "" "" "" "" "" "" "0000337571" "00198" "00448381" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., mild neurodevelopmental delay; intellectual disability; no seizures; no dysphagia; no optic atrophy; no nystagmus; MRI brain no generalized brain atrophy, dysgenesia corpus callosum, cerebellar atrophy, no anterior optic pathway volume reduction; normal EEG" "15m" "" "" "" "" "" "" "" "" "" ## 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}}" "0000449951" "00448373" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449952" "00448374" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ" "DNA" "" "" "0000449953" "00448375" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449954" "00448376" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449955" "00448377" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000449956" "00448378" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449957" "00448379" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449958" "00448380" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449959" "00448381" "1" "00006" "00006" "2024-03-05 08:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000449952" "SNF8" ## 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 = 17 "{{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}}" "0000971538" "1" "70" "17" "47010630" "47010630" "subst" "4.06078E-6" "00006" "SNF8_000004" "g.47010630G>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48933268G>T" "" "likely pathogenic (recessive)" "" "0000971539" "1" "70" "17" "47010630" "47010630" "subst" "4.06078E-6" "00006" "SNF8_000004" "g.47010630G>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48933268G>T" "" "likely pathogenic (recessive)" "" "0000971540" "1" "70" "17" "47018294" "47018294" "subst" "0" "00006" "SNF8_000007" "g.47018294G>A" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "" "" "0" "" "" "g.48940932G>A" "" "likely pathogenic (recessive)" "" "0000971541" "3" "70" "17" "47009021" "47009021" "subst" "0" "00006" "SNF8_000002" "g.47009021C>A" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48931659C>A" "" "likely pathogenic (recessive)" "" "0000971542" "3" "70" "17" "47009021" "47009021" "subst" "0" "00006" "SNF8_000002" "g.47009021C>A" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48931659C>A" "" "likely pathogenic (recessive)" "" "0000971543" "1" "70" "17" "47010709" "47010709" "subst" "0" "00006" "SNF8_000005" "g.47010709C>G" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "" "" "0" "" "" "g.48933347C>G" "" "likely pathogenic (recessive)" "" "0000971544" "1" "70" "17" "47007931" "47007941" "delins" "0" "00006" "SNF8_000001" "g.47007931_47007941delinsTCCA" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48930569_48930579delinsTCCA" "" "likely pathogenic (recessive)" "" "0000971545" "1" "70" "17" "47007931" "47007941" "delins" "0" "00006" "SNF8_000001" "g.47007931_47007941delinsTCCA" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48930569_48930579delinsTCCA" "" "likely pathogenic (recessive)" "" "0000971546" "1" "70" "17" "47018294" "47018294" "subst" "0" "00006" "SNF8_000007" "g.47018294G>A" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "" "" "0" "" "" "g.48940932G>A" "" "likely pathogenic (recessive)" "" "0000971547" "2" "70" "17" "47009072" "47009072" "subst" "0" "00006" "SNF8_000003" "g.47009072C>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48931710C>T" "" "likely pathogenic (recessive)" "" "0000971548" "2" "70" "17" "47009072" "47009072" "subst" "0" "00006" "SNF8_000003" "g.47009072C>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48931710C>T" "" "likely pathogenic (recessive)" "" "0000971549" "2" "70" "17" "47009072" "47009072" "subst" "0" "00006" "SNF8_000003" "g.47009072C>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "" "" "0" "" "" "g.48931710C>T" "" "likely pathogenic (recessive)" "" "0000971550" "2" "70" "17" "47014427" "47014427" "subst" "0.000166484" "00006" "SNF8_000006" "g.47014427C>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "" "" "0" "" "" "g.48937065C>T" "" "likely pathogenic (recessive)" "" "0000971551" "2" "70" "17" "47014427" "47014427" "subst" "0.000166484" "00006" "SNF8_000006" "g.47014427C>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48937065C>T" "" "likely pathogenic (recessive)" "" "0000971552" "2" "90" "17" "47014427" "47014427" "subst" "0.000166484" "00006" "SNF8_000006" "g.47014427C>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48937065C>T" "" "pathogenic (recessive)" "" "0000971553" "2" "90" "17" "47014427" "47014427" "subst" "0.000166484" "00006" "SNF8_000006" "g.47014427C>T" "" "{PMID:Brugger 2024:38423010}, {DOI:Brugger 2024:10.1016/j.ajhg.2024.02.005}" "" "" "" "Germline" "" "" "0" "" "" "g.48937065C>T" "" "pathogenic (recessive)" "" "0001041939" "0" "30" "17" "47014635" "47014635" "subst" "0" "01804" "SNF8_000008" "g.47014635G>A" "" "" "" "SNF8(NM_001317194.2):c.-148+8C>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 SNF8 ## Count = 17 "{{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}}" "0000971538" "00019540" "70" "501" "0" "501" "0" "c.501C>A" "r.(?)" "p.(Tyr167Ter)" "" "0000971539" "00019540" "70" "501" "0" "501" "0" "c.501C>A" "r.(?)" "p.(Tyr167Ter)" "" "0000971540" "00019540" "70" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Pro79Leu)" "" "0000971541" "00019540" "70" "623" "0" "623" "0" "c.623G>T" "r.(?)" "p.(Arg208Leu)" "" "0000971542" "00019540" "70" "623" "0" "623" "0" "c.623G>T" "r.(?)" "p.(Arg208Leu)" "" "0000971543" "00019540" "70" "423" "-1" "423" "-1" "c.423-1G>C" "r.spl" "p.?" "" "0000971544" "00019540" "70" "673" "0" "683" "0" "c.673_683delinsTGGA" "r.(?)" "p.(Asp225TrpfsTer99)" "" "0000971545" "00019540" "70" "673" "0" "683" "0" "c.673_683delinsTGGA" "r.(?)" "p.(Asp225TrpfsTer99)" "" "0000971546" "00019540" "70" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Pro79Leu)" "" "0000971547" "00019540" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000971548" "00019540" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000971549" "00019540" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000971550" "00019540" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Ile)" "" "0000971551" "00019540" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Ile)" "" "0000971552" "00019540" "90" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Ile)" "" "0000971553" "00019540" "90" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Ile)" "" "0001041939" "00019540" "30" "245" "-149" "245" "-149" "c.245-149C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000449951" "0000971538" "0000449951" "0000971547" "0000449952" "0000971539" "0000449952" "0000971548" "0000449953" "0000971540" "0000449953" "0000971549" "0000449954" "0000971541" "0000449955" "0000971542" "0000449956" "0000971543" "0000449956" "0000971550" "0000449957" "0000971544" "0000449957" "0000971551" "0000449958" "0000971545" "0000449958" "0000971552" "0000449959" "0000971546" "0000449959" "0000971553"