### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARSK) # 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}}" "ARSK" "arylsulfatase family, member K" "5" "q15" "unknown" "NC_000005.9" "UD_133033942369" "" "https://www.LOVD.nl/ARSK" "" "1" "25239" "153642" "610011" "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/ARSK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-30 10:49:32" "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}}" "00002926" "ARSK" "arylsulfatase family, member K" "001" "NM_198150.2" "" "NP_937793.1" "" "" "" "-158" "3187" "1611" "94890825" "94940806" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" "" "06969" "MPS10" "mucopolysaccharidosis, type X" "AR" "619698" "" "" "" "00006" "2022-09-30 10:49:19" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ARSK" "05580" "ARSK" "06969" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00418579" "" "" "" "2" "" "00006" "{PMID:Verheyen 2022:34916232}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Austria" "" "0" "" "" "Turkey" "Fam1S1" "00418580" "" "" "00418579" "1" "" "00006" "{PMID:Verheyen 2022:34916232}" "brother" "M" "yes" "Austria" "" "0" "" "" "Turkey" "Fam1S2" "00418581" "" "" "" "2" "" "00006" "{PMID:Verheyen 2022:34916232}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "Fam2S3" "00418582" "" "" "00418581" "1" "" "00006" "{PMID:Verheyen 2022:34916232}" "brother" "M" "yes" "India" "" "0" "" "" "" "Fam2S4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00418579" "00198" "00418580" "00198" "00418581" "00198" "00418582" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05580, 06969 ## Count = 4 "{{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}}" "0000309915" "00198" "00418579" "00006" "Familial, autosomal recessive" "16y" "height 146.5 cm, -3.25 SD, weight 68 kg, OFC 59 cm, 2.52 SD; coarse facial features; 14y-mild myopia, mild lens and vitreous opacity, mild retinal pigmentation temporal fovea; normal audiogram and tympanogram; open bite, wide spaced teeth, diastemata, canine-like appearance of lateral incisors; hands normal; disproportionate short-trunk short stature, genu valgus, mild scoliosis; liver normal; spleen normal; kidneys normal; systolic murmur, mild aortic valve stenosis and regurgitation, thickened ends of aortic cusps, mild left ventricular hypertrophy; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; no hyperlordosis; no scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs" "" "" "" "" "" "" "" "" "MPS10" "mucopolysaccharidosis, spondyloepiphysial dysplasia" "" "0000309916" "00198" "00418580" "00006" "Familial, autosomal recessive" "14y" "height 150 cm, -1.94 SD, weight 49 kg, OFC 58.5 cm, 1.95 SD; coarse facial features; mild lens and vitreous opacity, mild retinal pigmentation temporal fovea; normal audiogram and tympanogram; open bite, wide spaced teeth, canine-like appearance of lateral incisors; hands normal, intermittent paresthesia; disproportionate short-trunk short stature, mild genu valgus; liver normal; spleen normal; kidneys normal; systolic and diastolic murmur, mild aortic valve stenosis and regurgitation, thickened ends of aortic cusps; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; no hyperlordosis; scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs" "" "" "" "" "" "" "" "" "MPS10" "mucopolysaccharidosis, spondyloepiphysial dysplasia" "" "0000309917" "00198" "00418581" "00006" "Familial, autosomal recessive" "18y" "height 157 cm, -3.22 SD, OFC 53 cm, -2.21 SD; coarse facial features, long philtrum, broad nasal root; normal eyes; normal auditory system; normal jaw, normal teeth; normal habds/wrists; disproportionate short-trunk short stature, genu valgus; liver normal; spleen normal; ; heart normal; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; hyperlordosis; no scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs" "" "" "" "" "" "" "" "" "MPS10" "brachyolmia, mucopolysaccharidosis, spondyloepiphysial dysplasia" "" "0000309918" "00198" "00418582" "00006" "Familial, autosomal recessive" "17y" "height 145.5 cm, -4.53 SD, weight 32.48 kg, OFC 52.5 cm, -2.41 SD; coarse facial features, long philtrum, broad nasal root; normal eye, no corneal opacity, normal fundus; normal auditory system; normal jaw, normal teeth; brachydactyly, arthropathy of right wrist; disproportionate short-trunk short stature, genu valgus, mild scoliosis; liver normal; spleen normal; 6y-operation for right renal calculus; heart normal; neurological examination normal; thickened cortical bone calvaria; no rounded or bullet-shape vertebral bodies; irregular vertebral end plates; platyspondyly; anterior inferior beaking thoracolumbar vertebrae; posterior scalloping vertebral bodies; no thoracolumbar junction kyphosis; no kyphosis with gibbus; hyperlordosis; scoliosis; no spinal cord compression; poor development acetabulum and medial proportion of proximal femoral epiphysis; iregular acetabular roofs, reduced hip joint space; severe hip dysplasia; carpal and tarsal bones hypoplastic and irregularly shaped; metacarpal bones proximally pointed, shortened and thickened; short third, fourth and fifth metacarpals; hypoplastic and thinned epiphyses cortically with osteoporosis; small epiphyses of lower ends of radius, ulna and capital femur; metaphyseal striae; abnormally shaped ribs, spatulate ribs, broadening of clavicles and ribs" "" "" "" "" "" "" "" "" "MPS10" "brachyolmia, mucopolysaccharidosis, spondyloepiphysial dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000419874" "00418579" "1" "00006" "00006" "2022-09-30 11:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419875" "00418580" "1" "00006" "00006" "2022-09-30 11:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419876" "00418581" "1" "00006" "00006" "2022-09-30 11:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419877" "00418582" "1" "00006" "00006" "2022-09-30 11:29:08" "" "" "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 = 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}}" "0000880046" "3" "90" "5" "94901825" "94901825" "subst" "2.03804E-5" "00006" "ARSK_000001" "g.94901825C>T" "" "{PMID:Verheyen 2022:34916232}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95566121C>T" "" "pathogenic (recessive)" "" "0000880047" "3" "90" "5" "94901825" "94901825" "subst" "2.03804E-5" "00006" "ARSK_000001" "g.94901825C>T" "" "{PMID:Verheyen 2022:34916232}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95566121C>T" "" "pathogenic (recessive)" "" "0000880048" "3" "90" "5" "94918763" "94918763" "subst" "4.06501E-6" "00006" "ARSK_000002" "g.94918763T>A" "" "{PMID:Verheyen 2022:34916232}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95583059T>A" "" "pathogenic (recessive)" "" "0000880049" "3" "90" "5" "94918763" "94918763" "subst" "4.06501E-6" "00006" "ARSK_000002" "g.94918763T>A" "" "{PMID:Verheyen 2022:34916232}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95583059T>A" "" "pathogenic (recessive)" "" "0000963747" "0" "50" "5" "94936775" "94936775" "subst" "0.000245871" "01804" "ARSK_000003" "g.94936775G>C" "" "" "" "ARSK(NM_198150.2):c.1321G>C (p.(Asp441His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976897" "0" "30" "5" "94936542" "94936542" "subst" "8.96065E-5" "01804" "ARSK_000004" "g.94936542G>A" "" "" "" "ARSK(NM_198150.3):c.1097-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035368" "0" "50" "5" "94891080" "94891080" "subst" "3.35081E-5" "01804" "ARSK_000005" "g.94891080A>G" "" "" "" "ARSK(NM_198150.3):c.98A>G (p.(Asn33Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035369" "0" "30" "5" "94936596" "94936596" "subst" "0.000841292" "01804" "ARSK_000006" "g.94936596T>C" "" "" "" "ARSK(NM_198150.3):c.1142T>C (p.(Leu381Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035370" "0" "50" "5" "94936697" "94936697" "subst" "5.28318E-5" "01804" "ARSK_000007" "g.94936697T>A" "" "" "" "ARSK(NM_198150.3):c.1243T>A (p.(Ser415Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 ARSK ## 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}}" "0000880046" "00002926" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0000880047" "00002926" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0000880048" "00002926" "90" "560" "0" "560" "0" "c.560T>A" "r.(?)" "p.(Leu187Ter)" "" "0000880049" "00002926" "90" "560" "0" "560" "0" "c.560T>A" "r.(?)" "p.(Leu187Ter)" "" "0000963747" "00002926" "50" "1321" "0" "1321" "0" "c.1321G>C" "r.(?)" "p.(Asp441His)" "" "0000976897" "00002926" "30" "1097" "-9" "1097" "-9" "c.1097-9G>A" "r.(=)" "p.(=)" "" "0001035368" "00002926" "50" "98" "0" "98" "0" "c.98A>G" "r.(?)" "p.(Asn33Ser)" "" "0001035369" "00002926" "30" "1142" "0" "1142" "0" "c.1142T>C" "r.(?)" "p.(Leu381Ser)" "" "0001035370" "00002926" "50" "1243" "0" "1243" "0" "c.1243T>A" "r.(?)" "p.(Ser415Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000419874" "0000880046" "0000419875" "0000880047" "0000419876" "0000880048" "0000419877" "0000880049"