### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BRSK1) # 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}}" "BRSK1" "BR serine/threonine kinase 1" "19" "q13.4" "unknown" "NC_000019.9" "UD_132610841872" "" "https://www.LOVD.nl/BRSK1" "" "1" "18994" "84446" "609235" "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/BRSK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-10-03 22:01:56" "00006" "2026-10-03 23:18:34" ## 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}}" "00003505" "BRSK1" "BR serine/threonine kinase 1" "001" "NM_032430.1" "" "NP_115806.1" "" "" "" "-277" "2831" "2337" "55795534" "55823930" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BRSK1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00485573" "" "" "" "1" "" "00006" "{PMID:Deng 2026:42805187}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "United States" "" "0" "" "" "" "Fam1PatII1" "00485574" "" "" "" "1" "" "00006" "{PMID:Deng 2026:42805187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Pakistan" "" "0" "" "" "" "Fam2PatII1" "00485575" "" "" "" "2" "" "00006" "{PMID:Deng 2026:42805187}" "2-generation family, 1 affected, mildly affected mother" "F" "" "United States" "" "0" "" "" "" "Fam3PatII1" "00485576" "" "" "" "1" "" "00006" "{PMID:Deng 2026:42805187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam4PatII1" "00485577" "" "" "" "4" "" "00006" "{PMID:Deng 2026:42805187}" "3-generation family, 4 affected (F, 3M), unaffected non-carrier parents" "M" "" "Austria" "" "0" "" "" "" "Fam5PatII3" "00485578" "" "" "00485577" "1" "" "00006" "{PMID:Deng 2026:42805187}" "son" "M" "" "Austria" "" "0" "" "" "" "Fam5PatIII1" "00485579" "" "" "00485577" "1" "" "00006" "{PMID:Deng 2026:42805187}" "daughter" "F" "" "Austria" "" "0" "" "" "" "Fam5PatIII2" "00485580" "" "" "00485577" "1" "" "00006" "{PMID:Deng 2026:42805187}" "son" "M" "" "Austria" "" "0" "" "" "" "Fam5PatIII3" "00485581" "" "" "" "1" "" "00006" "{PMID:Deng 2026:42805187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam6PatII1" "00485582" "" "" "" "1" "" "00006" "{PMID:Deng 2026:42805187}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "France" "" "0" "" "" "" "Fam7PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00485573" "05611" "00485574" "05611" "00485575" "05611" "00485576" "05611" "00485577" "05611" "00485578" "05611" "00485579" "05611" "00485580" "05611" "00485581" "05611" "00485582" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000368203" "05611" "00485573" "00006" "Unknown" "5y" "see paper; ..., moderate developmental delay; delayed speech, language development; anxiety; no seizures; no abnormality eyes; short stature; decreased body weight; hypotonia; no growth retardation; no hypoxic ischemic encephalopathy; no microcephaly; no recurrent infection; scoliosis; thin upper lip vermilion, downturned corners of mouth, widely spaced teeth, abnormality palmar creases, broad-based gait, absent patellar reflexes, posteriorly rotated ears, long palpebral fissure, frontal bossing, joint laxity" "3m" "" "" "" "" "" "neurodevelopmental disorder" "0000368204" "05611" "00485574" "00006" "Isolated (sporadic)" "21y" "see paper; ..., moderate developmental delay; moderate intellectual disability; delayed speech, language development; anxiety; no seizures; autism spectrum disorder; aggressive behaviors; strabismus; short stature; no decreased body weight; hypotonia; growth retardation; no hypoxic ischemic encephalopathy; microcephaly; recurrent infection; no scoliosis" "" "" "" "" "" "" "neurodevelopmental disorder" "0000368205" "05611" "00485575" "00006" "Unknown" "12y" "see paper; ..., moderate developmental delay; attention deficit hyperactivity disorder/attention deficit disorder; seizures; autism spectrum disorder; amblyopia left eye; hypoxic ischemic encephalopathy; microcephaly" "" "" "" "" "" "" "neurodevelopmental disorder" "0000368206" "05611" "00485576" "00006" "Isolated (sporadic)" "13y" "see paper; ..., onset infancy; moderate developmental delay; moderate intellectual disability; delayed speech, language development; anxiety; attention deficit hyperactivity disorder/attention deficit disorder; no seizures; autism spectrum disorder; aggressive behaviors; no abnormality eyes; no short stature; no decreased body weight; no hypotonia; no growth retardation; no hypoxic ischemic encephalopathy; no microcephaly; no recurrent infection; no scoliosis; dental crowding, numerous simple/complex motor and phonic tics throughout the day (on guanfacine), impaired fine hand control, height 90th, weight 50th, OFC 57 cm" "" "" "" "" "" "" "neurodevelopmental disorder" "0000368207" "05611" "00485577" "00006" "Isolated (sporadic)" "38y" "see paper; ..., severe developmental delay; severe intellectual disability; microcephaly" "" "" "" "" "" "" "neurodevelopmental disorder" "0000368208" "05611" "00485578" "00006" "Familial, autosomal dominant" "16y" "see paper; ..., severe developmental delay; severe intellectual disability; microcephaly" "" "" "" "" "" "" "neurodevelopmental disorder" "0000368209" "05611" "00485579" "00006" "Familial, autosomal dominant" "12y" "see paper; ..., mild developmental delay; mild intellectual disability; microcephaly" "" "" "" "" "" "" "neurodevelopmental disorder" "0000368210" "05611" "00485580" "00006" "Familial, autosomal dominant" "8y" "see paper; ..., severe developmental delay; severe intellectual disability; microcephaly" "" "" "" "" "" "" "neurodevelopmental disorder" "0000368211" "05611" "00485581" "00006" "Isolated (sporadic)" "18y" "see paper; ..., mild intellectual disability; delayed speech, language development; anxiety; attention deficit hyperactivity disorder/attention deficit disorder; seizures; autism spectrum disorder; no aggressive behaviors; no abnormality eyes; no short stature; no decreased body weight; no hypotonia; no growth retardation; no hypoxic ischemic encephalopathy; no microcephaly; no scoliosis; recurrent ear infections/couple bouts of pneumonia" "12m" "" "" "" "" "" "neurodevelopmental disorder" "0000368212" "05611" "00485582" "00006" "Unknown" "15y" "see paper; ..., mild developmental delay; delayed speech, language development; anxiety; attention deficit hyperactivity disorder/attention deficit disorder; autism spectrum disorder" "4m" "" "" "" "" "" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000487230" "00485573" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000487231" "00485574" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000487232" "00485575" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-PB" "DNA" "" "WGS" "0000487233" "00485576" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000487234" "00485577" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000487235" "00485578" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000487236" "00485579" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000487237" "00485580" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000487238" "00485581" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000487239" "00485582" "1" "00006" "00006" "2026-10-03 23:18:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## 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 = 12 "{{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}}" "0000268007" "0" "50" "19" "55816059" "55816059" "subst" "0" "02329" "BRSK1_000001" "g.55816059T>A" "" "" "" "BRSK1(NM_032430.2):c.1488T>A (p.S496R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55304691T>A" "" "VUS" "" "0001068050" "0" "50" "19" "55823343" "55823343" "del" "0" "03779" "BRSK1_000003" "g.55823343del" "" "" "" "" "" "Unknown" "" "rs2516397450" "0" "" "" "" "" "VUS" "" "0001090561" "0" "90" "19" "55815125" "55815125" "subst" "0" "00006" "chr19_013038" "g.55815125C>T" "" "{PMID:Deng 2026:42805187}" "" "" "father not available" "Unknown" "" "" "0" "" "" "g.55303757C>T" "" "pathogenic (dominant)" "" "0001090562" "0" "90" "19" "55805610" "55805610" "subst" "0" "00006" "chr19_013039" "g.55805610A>G" "" "{PMID:Deng 2026:42805187}" "" "" "" "De novo" "" "" "0" "" "" "g.55294242A>G" "" "pathogenic (dominant)" "" "0001090563" "21" "90" "19" "55812910" "55812910" "subst" "0" "00006" "chr19_013040" "g.55812910C>T" "" "{PMID:Deng 2026:42805187}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55301542C>T" "" "pathogenic (dominant)" "" "0001090564" "0" "90" "19" "55800924" "55800924" "subst" "0" "00006" "chr19_013041" "g.55800924G>T" "" "{PMID:Deng 2026:42805187}" "" "" "" "De novo" "" "" "0" "" "" "g.55289556G>T" "" "pathogenic (dominant)" "" "0001090565" "0" "90" "19" "55815190" "55815190" "subst" "0" "00006" "chr19_013042" "g.55815190C>T" "" "{PMID:Deng 2026:42805187}" "" "" "" "De novo" "" "" "0" "" "" "g.55303822C>T" "" "pathogenic (dominant)" "" "0001090566" "11" "90" "19" "55815190" "55815190" "subst" "0" "00006" "chr19_013042" "g.55815190C>T" "" "{PMID:Deng 2026:42805187}" "" "" "" "Germline" "" "" "0" "" "" "g.55303822C>T" "" "pathogenic (dominant)" "" "0001090567" "11" "90" "19" "55815190" "55815190" "subst" "0" "00006" "chr19_013042" "g.55815190C>T" "" "{PMID:Deng 2026:42805187}" "" "" "" "Germline" "" "" "0" "" "" "g.55303822C>T" "" "pathogenic (dominant)" "" "0001090568" "11" "90" "19" "55815190" "55815190" "subst" "0" "00006" "chr19_013042" "g.55815190C>T" "" "{PMID:Deng 2026:42805187}" "" "" "" "Germline" "" "" "0" "" "" "g.55303822C>T" "" "pathogenic (dominant)" "" "0001090569" "0" "90" "19" "55805404" "55805404" "subst" "0" "00006" "chr19_013043" "g.55805404G>T" "" "{PMID:Deng 2026:42805187}" "" "" "" "De novo" "" "" "0" "" "" "g.55294036G>T" "" "pathogenic (dominant)" "" "0001090570" "0" "90" "19" "55798417" "55798515" "del" "0" "00006" "chr19_013044" "g.55798417_55798515del" "" "{PMID:Deng 2026:42805187}" "" "" "father not available" "Unknown" "" "" "0" "" "" "g.55287049_55287147del" "" "pathogenic (dominant)" "" ## 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 BRSK1 ## Count = 12 "{{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}}" "0000268007" "00003505" "50" "1488" "0" "1488" "0" "c.1488T>A" "r.(?)" "p.(Ser496Arg)" "" "0001068050" "00003505" "50" "2244" "0" "2244" "0" "c.2244del" "r.(?)" "p.(Gly749AlafsTer7)" "" "0001090561" "00003505" "90" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.(Thr406Ile)" "" "0001090562" "00003505" "90" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Ile202Val)" "" "0001090563" "00003505" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Cys)" "" "0001090564" "00003505" "90" "394" "0" "394" "0" "c.394G>T" "r.(?)" "p.(Glu132Ter)" "" "0001090565" "00003505" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Gln428Ter)" "" "0001090566" "00003505" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Gln428Ter)" "" "0001090567" "00003505" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Gln428Ter)" "" "0001090568" "00003505" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Gln428Ter)" "" "0001090569" "00003505" "90" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Glu160Ter)" "" "0001090570" "00003505" "90" "179" "0" "231" "46" "c.179_231+46del" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000487230" "0001090561" "0000487231" "0001090562" "0000487232" "0001090563" "0000487233" "0001090564" "0000487234" "0001090565" "0000487235" "0001090566" "0000487236" "0001090567" "0000487237" "0001090568" "0000487238" "0001090569" "0000487239" "0001090570"