### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KY) # 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}}" "KY" "kyphoscoliosis peptidase" "3" "q22.1" "unknown" "NG_054713.1" "UD_136020483997" "" "https://www.LOVD.nl/KY" "" "1" "26576" "339855" "605739" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/KY_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-14 18:35:52" "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}}" "00010918" "KY" "kyphoscoliosis peptidase" "001" "NM_178554.4" "" "NP_848649.3" "" "" "" "-62" "5642" "1986" "134369864" "134318765" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "05104" "-" "neuropathy, peripheral" "" "" "" "" "" "00006" "2015-12-05 03:05:09" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05299" "MFM" "myopathy, myofibrillar (MFM)" "" "" "" "" "" "00006" "2017-06-30 15:34:57" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "05787" "MFM7" "myopathy, myofibrillar, type 7 (MFM7)" "AR" "617114" "" "" "" "00006" "2020-07-14 18:35:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KY" "05299" "KY" "05787" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00063263" "" "" "" "1" "" "01579" "" "" "F" "yes" "" "" "0" "" "" "" "" "00265880" "" "" "" "1" "" "03443" "" "" "F" "yes" "Pakistan" "" "0" "" "" "" "03443" "00295568" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00473062" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam12695Pat176" "00473312" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam203072Pat551" "00473509" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam8606961Pat878" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00063263" "00244" "00265880" "05104" "00295568" "00198" "00473062" "05126" "00473312" "05618" "00473509" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 05104, 05126, 05299, 05618, 05787 ## Count = 5 "{{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}}" "0000050846" "00244" "00063263" "01579" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223133" "00198" "00295568" "01164" "Unknown" "" "Weakness due to upper motor neuron dysfunction (HP:0010549); Abnormality of muscle morphology (HP:0011805); Tetraparesis (HP:0002273); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000357857" "05126" "00473062" "00006" "Unknown" "33y" "Age at diagnosis: 23y, Hx. of delayed motor milestone; Proximal & distal muscle weakness; Decreased muscle force; Lumbar lordosis; Muscle wasting at shoulder girdle; Waddling gait; Achilles tendon contractures; Wheelchair bound; Hx of spinal tumor, cellular schwannoma & hypothyroidism; Lower limb MRI: fatty atrophy; Echocardiography: mild MVP, PI & TR, trivial MR, AR; Elevated CPK; EMG-NCV: chronic myopathic process; Muscle biopsies: suggestive of SMA, type 3 & LGMD." "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000358107" "05618" "00473312" "00006" "Familial, autosomal recessive" "34y" "Muscle weakness, progressive; EMG-NCV: compatible with myopathic disorder, probably limb girdle muscular dystrophy; Positive FHx of similar disorder" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000358304" "00244" "00473509" "00006" "Familial, autosomal recessive" "47y" "sporadic case, started 12y with tip toe walking,climbing difficulty,dysarthria, dysphagia, gait abnormality, severe myopathy reported in EMG,slightly atrophic changes with fiber types uniformity reported in muscle biopsy, slightly elavated LDH abd CPK" "" "" "" "" "" "" "" "" "" "myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000063394" "00063263" "1" "01579" "01579" "2016-04-12 22:54:01" "" "" "SEQ-NG" "DNA" "" "" "0000267000" "00265880" "1" "03443" "03443" "2019-10-09 17:25:41" "03443" "2020-07-14 17:59:37" "SEQ" "DNA" "" "" "0000296738" "00295568" "1" "01164" "01164" "2020-03-18 10:48:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000474731" "00473062" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474981" "00473312" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475178" "00473509" "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 = 1 "{{screeningid}}" "{{geneid}}" "0000267000" "KY" ## 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 = 11 "{{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}}" "0000094346" "3" "70" "3" "134327510" "134327510" "del" "0" "01579" "KY_000001" "g.134327510del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608668del" "" "likely pathogenic" "" "0000653438" "0" "70" "3" "134346661" "134346661" "subst" "4.06375E-6" "01164" "KY_000003" "g.134346661C>G" "" "" "" "" "no second variant detected in KY" "Germline" "" "rs377393636" "0" "" "" "g.134627819C>G" "" "likely pathogenic" "ACMG" "0000674422" "3" "90" "3" "134329081" "134329094" "del" "0" "03443" "KY_000004" "g.134329081_134329094del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.134610239_134610252del" "" "pathogenic (recessive)" "" "0000719209" "0" "30" "3" "134327503" "134327503" "subst" "0.00329394" "01804" "KY_000005" "g.134327503T>A" "" "" "" "KY(NM_178554.4):c.1078A>T (p.(Met360Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858810" "0" "30" "3" "134323012" "134323012" "subst" "0.00145243" "02326" "KY_000006" "g.134323012C>T" "" "" "" "KY(NM_178554.6):c.1395G>A (p.K465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993306" "0" "50" "3" "134323103" "134323103" "subst" "0" "01804" "KY_000007" "g.134323103C>A" "" "" "" "KY(NM_178554.4):c.1304G>T (p.(Cys435Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993307" "0" "50" "3" "134338098" "134338098" "subst" "0.000276187" "01804" "KY_000008" "g.134338098A>G" "" "" "" "KY(NM_178554.4):c.602T>C (p.(Ile201Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033704" "0" "50" "3" "134329176" "134329176" "subst" "1.22044E-5" "01804" "KY_000009" "g.134329176C>T" "" "" "" "KY(NM_178554.6):c.760G>A (p.(Gly254Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069129" "3" "50" "3" "134339623" "134339623" "subst" "8.14578E-6" "00006" "KY_000010" "g.134339623C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.134620781C>T" "SCV006075010" "VUS" "ACMG" "0001069379" "3" "70" "3" "134343973" "134343973" "del" "0" "00006" "KY_000011" "g.134343973del" "" "{PMID:Molaei 2025:41315541}" "" "408delC" "ACMG PM2, PVS1_str" "Germline" "" "" "0" "" "" "g.134625131del" "SCV006075184" "likely pathogenic" "ACMG" "0001069574" "3" "70" "3" "134343973" "134343973" "del" "0" "00006" "KY_000011" "g.134343973del" "" "{PMID:Molaei 2025:41315541}" "" "408delC" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.134625131del" "SCV006075184" "likely pathogenic" "ACMG" ## 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 KY ## Count = 11 "{{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}}" "0000094346" "00010918" "70" "1071" "0" "1071" "0" "c.1071del" "r.(?)" "p.(Thr358Leufs*3)" "10" "0000653438" "00010918" "70" "338" "-1" "338" "-1" "c.338-1G>C" "r.(?)" "p.(?)" "" "0000674422" "00010918" "90" "842" "0" "855" "0" "c.842_855del" "r.(?)" "p.(Val281Glyfs*18)" "" "0000719209" "00010918" "30" "1078" "0" "1078" "0" "c.1078A>T" "r.(?)" "p.(Met360Leu)" "" "0000858810" "00010918" "30" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Lys465=)" "" "0000993306" "00010918" "50" "1304" "0" "1304" "0" "c.1304G>T" "r.(?)" "p.(Cys435Phe)" "" "0000993307" "00010918" "50" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Ile201Thr)" "" "0001033704" "00010918" "50" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Gly254Ser)" "" "0001069129" "00010918" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "" "0001069379" "00010918" "70" "408" "0" "408" "0" "c.408del" "r.(?)" "p.(Trp137GlyfsTer6)" "" "0001069574" "00010918" "70" "408" "0" "408" "0" "c.408del" "r.(?)" "p.(Trp137GlyfsTer6)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000063394" "0000094346" "0000267000" "0000674422" "0000296738" "0000653438" "0000474731" "0001069129" "0000474981" "0001069379" "0000475178" "0001069574"