### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPG21) # 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}}" "SPG21" "spastic paraplegia 21 (autosomal recessive, Mast syndrome)" "15" "q21-q22" "unknown" "NC_000015.9" "UD_132085311723" "" "https://www.LOVD.nl/SPG21" "" "1" "20373" "51324" "608181" "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/SPG21_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-03-05 13:30:24" "00006" "2026-03-06 17:26:39" ## 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}}" "00020172" "SPG21" "transcript variant 1" "002" "NM_016630.3" "" "NP_057714.1" "" "" "" "-273" "1525" "927" "65282251" "65255363" "" "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}}" "01909" "MASTS;SPG21" "Mast syndrome (spatic paraplegia, type 21)" "AR" "248900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-03-05 13:32:35" "07233" "paraplegia" "paraplegia" "" "" "" "" "" "00006" "2026-03-03 14:58:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SPG21" "01909" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00473355" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam206276Pat621" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00473355" "07233" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01909, 07233 ## 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}}" "0000358150" "07233" "00473355" "00006" "Unknown" "36y" "onset 7y, spastic gait, frequent falling, increased DTR, spastic paraplegia, frontotemporal mild cortical atrophy, diffuse cerebellar atrophy and thinning of corpus callosum reported in brain MRI" "" "" "" "" "" "" "" "" "hereditary paraplegia" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000475024" "00473355" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 10 "{{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}}" "0000315577" "0" "70" "15" "65273213" "65273213" "subst" "1.62442E-5" "01943" "SPG21_000002" "g.65273213G>A" "" "" "" "SPG21(NM_016630.6):c.214C>T (p.R72W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64980875G>A" "" "likely pathogenic" "" "0000315578" "0" "50" "15" "65262475" "65262475" "subst" "0.000950949" "01943" "SPG21_000001" "g.65262475C>T" "" "" "" "SPG21(NM_016630.6):c.538G>A (p.A180T), SPG21(NM_016630.7):c.538G>A (p.A180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64970137C>T" "" "VUS" "" "0000338577" "0" "10" "15" "65282191" "65282191" "subst" "0" "02327" "SPG21_000005" "g.65282191G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64989853G>A" "" "benign" "" "0000341039" "0" "10" "15" "65256045" "65256045" "subst" "0.0146847" "02327" "SPG21_000003" "g.65256045G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64963704G>A" "" "benign" "" "0000343492" "0" "50" "15" "65268844" "65268844" "subst" "0" "02327" "SPG21_000004" "g.65268844C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64976506C>G" "" "VUS" "" "0000555138" "0" "50" "15" "65257726" "65257726" "subst" "0" "01943" "SPG21_000006" "g.65257726G>T" "" "" "" "SPG21(NM_016630.6):c.745C>A (p.H249N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64965385G>T" "" "VUS" "" "0000615439" "0" "30" "15" "65262475" "65262475" "subst" "0.000950949" "02326" "SPG21_000001" "g.65262475C>T" "" "" "" "SPG21(NM_016630.6):c.538G>A (p.A180T), SPG21(NM_016630.7):c.538G>A (p.A180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64970137C>T" "" "likely benign" "" "0000657629" "0" "30" "15" "65273237" "65273237" "subst" "1.21819E-5" "01943" "SPG21_000007" "g.65273237A>G" "" "" "" "SPG21(NM_016630.6):c.190T>C (p.L64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64980899A>G" "" "likely benign" "" "0000806868" "0" "50" "15" "65275932" "65275932" "subst" "0" "01943" "SPG21_000008" "g.65275932C>G" "" "" "" "SPG21(NM_016630.6):c.-24-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069422" "0" "70" "15" "65261591" "65262561" "del" "0" "00006" "SPG21_000009" "g.(65257802_65261591)_(65262561_65266939)del" "" "{PMID:Molaei 2025:41315541}" "" "del ex6-7, NC_000015.9:g.(?_65261591-65262563_?)del" "" "Germline" "" "" "0" "" "" "g.(64965461_64969254)_(64970223_64974601)del" "" "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 SPG21 ## Count = 10 "{{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}}" "0000315577" "00020172" "70" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Trp)" "" "0000315578" "00020172" "50" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0000338577" "00020172" "10" "-213" "0" "-213" "0" "c.-213C>T" "r.(?)" "p.(=)" "" "0000341039" "00020172" "10" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(Tyr281=)" "" "0000343492" "00020172" "50" "275" "0" "275" "0" "c.275G>C" "r.(?)" "p.(Arg92Thr)" "" "0000555138" "00020172" "50" "745" "0" "745" "0" "c.745C>A" "r.(?)" "p.(His249Asn)" "" "0000615439" "00020172" "30" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0000657629" "00020172" "30" "190" "0" "190" "0" "c.190T>C" "r.(?)" "p.(Leu64=)" "" "0000806868" "00020172" "50" "-24" "-1" "-24" "-1" "c.-24-1G>C" "r.spl?" "p.?" "" "0001069422" "00020172" "70" "453" "-1" "669" "1" "c.(452+1_453-1)_(669+1_670-1)del" "r.?" "p.?" "5i_7i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000475024" "0001069422"