### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SEPT4)
# 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}}"
"SEPT4" "septin 4" "17" "q22" "unknown" "NC_000017.10" "UD_132118288634" "" "https://www.LOVD.nl/SEPTIN4" "" "1" "9165" "5414" "603696" "1" "1" "1" "1" "Mane Select NM_001368771.2. Alias PNUTL2, C17orf47, SEPT4.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from SEPT4 to SEPTIN4" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-07-18 13:41:18" "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}}"
"00018672" "SEPT4" "transcript variant 4" "001" "NM_001198713.1" "" "NP_001185642.1" "" "" "" "-117" "1589" "1413" "56618179" "56597611" "" "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}}"
"00433" "NBIA1" "neurodegeneration, with brain iron accumulation, type 1 (NBIA)" "AR" "234200" "" "" "" "00006" "2014-06-24 21:43:21" "00006" "2021-12-10 21:51:32"
"05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## 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}}"
"00017613" "" "" "" "1" "" "00705" "{PMID:Dusi 2014:24360804}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "F" "yes" "Italy" "" "0" "" "" "" ""
"00413321" "" "" "" "1" "" "04352" "" "" "" "" "China" "" "0" "" "" "" ""
"00413420" "" "" "" "1" "" "04352" "" "" "" "" "China" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00017613" "00433"
"00413321" "05562"
"00413420" "05562"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00433, 05562
## Count = 1
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000053525" "00433" "00017613" "00705" "Familial, autosomal recessive" "25y" "birth weight: 3,850 g; No history of perinatal complications;Normal early\r\ndevelopmental milestones; 24 months: parents reported gait difficulties and persistent toe walking; 6y: poor academic ability;15y: Normal general physical examination; Mild oro-mandibular dystonia with dysarthria; spastic dystonic paraparesis; still able to walk unaided; IQ ΒΌ 49; 20y:unable to ambulate independently; 25y: severe spastic bradykinetic-rigid syndrome associated with mild dystonia with distal areflexia in the lower limbs" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000017596" "00017613" "1" "00705" "00705" "2014-06-24 14:06:02" "" "" "SEQ" "DNA" "" ""
"0000414594" "00413321" "1" "04352" "04352" "2022-07-15 09:30:19" "" "" "SEQ" "DNA" "" ""
"0000414697" "00413420" "1" "04352" "04352" "2022-07-15 09:30:19" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000017596" "COASY"
"0000414594" "SEPT4"
"0000414697" "SEPT4"
## 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 = 5
"{{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}}"
"0000117668" "3" "30" "17" "56621291" "56621291" "subst" "0" "00006" "SEPT4_000004" "g.56621291C>T" "" "{PMID:Dusi 2014:24360804}" "" "257C>T (Arg86Gln)" "" "Germline" "" "" "0" "" "" "g.58543930G>A" "" "likely benign" ""
"0000325520" "0" "50" "17" "56598121" "56598121" "subst" "1.62447E-5" "01804" "SEPT4_000001" "g.56598121G>A" "" "" "" "SEPT4(NM_001198713.1):c.1336C>T (p.(Arg446Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58520760G>A" "" "VUS" ""
"0000872292" "3" "90" "17" "56620827" "56620827" "subst" "0" "04352" "SEPT4_000002" "g.56620827T>A" "" "" "" "NM_001368771.2:c.721A>T (R241*)" "" "Germline" "" "" "0" "" "" "g.58543466T>A" "" "pathogenic (recessive)" ""
"0000872399" "3" "90" "17" "56621343" "56621343" "subst" "2.4375E-5" "04352" "SEPT4_000003" "g.56621343G>A" "" "" "" "NM_001368771.2:c.205C>T (R69*)" "" "Germline" "" "" "0" "" "" "g.58543982G>A" "" "pathogenic (recessive)" ""
"0001042013" "0" "70" "17" "56638892" "56638892" "del" "0" "02325" "TEX14_000052" "g.56638892del" "" "" "" "TEX14(NM_198393.4):c.4268delG (p.G1423Afs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 SEPT4
## Count = 5
"{{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}}"
"0000117668" "00018672" "30" "-3229" "0" "-3229" "0" "c.-3229G>A" "r.(?)" "p.(=)" ""
"0000325520" "00018672" "50" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446Ter)" ""
"0000872292" "00018672" "90" "-2765" "0" "-2765" "0" "c.-2765A>T" "r.(?)" "p.(=)" ""
"0000872399" "00018672" "90" "-3281" "0" "-3281" "0" "c.-3281C>T" "r.(?)" "p.(=)" ""
"0001042013" "00018672" "70" "-20828" "0" "-20828" "0" "c.-20828del" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000017596" "0000117668"
"0000414594" "0000872292"
"0000414697" "0000872399"