### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FXR1) # 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}}" "FXR1" "FMR1 autosomal homolog 1" "3" "q28" "unknown" "NC_000003.11" "UD_136087129126" "" "https://www.LOVD.nl/FXR1" "" "1" "4023" "8087" "600819" "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/FXR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-19 11:46:56" "00000" "2020-09-15 15:50:26" ## 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}}" "00025489" "FXR1" "transcript variant 1" "006" "NM_005087.3" "" "NP_005078.2" "" "" "" "-240" "8327" "1866" "180630234" "180700541" "00006" "2020-01-11 17:01:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "06600" "MYORIBF" "?Myopathy, congenital, with respiratory insufficiency and bone fractures" "AR" "618822" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06601" "MYOPMIL" "?Myopathy, congenital proximal, with minicore lesions" "AR" "618823" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FXR1" "00244" "FXR1" "06600" "FXR1" "06601" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00240378" "" "" "" "3" "" "00006" "{PMID:Estan 2019:30770808}" "5-generation family, 3 affected sibs (, unaffected heterozygous carrier parents/relatives" "F;M" "" "Egypt" "" "0" "" "" "" "Fam1" "00240379" "" "" "" "3" "" "00006" "{PMID:Estan 2019:30770808}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Canada" "" "0" "" "" "" "Fam2" "00275622" "" "" "" "3" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamAP51Pat1" "00275623" "" "" "00275622" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamAP51Pat3" "00275624" "" "" "00275622" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamAP51Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00240378" "00244" "00240379" "00244" "00275622" "00139" "00275623" "00139" "00275624" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00244, 06600, 06601 ## Count = 5 "{{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}}" "0000180443" "00244" "00240378" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "multi-minicore myopathy" "0000180444" "00244" "00240379" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal hypotonia, delayed gross motor milestones, mild/moderate obstructive sleep\r\napne" "" "" "" "" "" "" "" "" "multi-minicore myopathy" "0000210233" "00139" "00275622" "00006" "Familial, autosomal recessive" "16y" "OFC 53cm; IQ 30, severe intellectual disability (HP:0010864); alopecia" "" "" "" "" "" "" "" "" "intellectual disability" "0000210234" "00139" "00275623" "00006" "Familial, autosomal recessive" "18y" "OFC 53cm; IQ 30, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "intellectual disability" "0000210235" "00139" "00275624" "00006" "Familial, autosomal recessive" "20y" "OFC 54cm; IQ 30, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000241488" "00240378" "1" "00006" "00006" "2019-06-19 11:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241489" "00240379" "1" "00006" "00006" "2019-06-19 11:55:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000276780" "00275622" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276781" "00275623" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276782" "00275624" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000241488" "FXR1" "0000241489" "FXR1" "0000276780" "FXR1" "0000276781" "FXR1" "0000276782" "FXR1" ## 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}}" "0000329713" "0" "50" "3" "180703710" "180703713" "del" "0" "01804" "DNAJC19_000001" "g.180703710_180703713del" "" "" "" "DNAJC19(NM_001190233.1):c.205+4_205+7del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180985922_180985925del" "" "VUS" "" "0000487461" "3" "90" "3" "180688936" "180688939" "del" "0" "00006" "FXR1_000001" "g.180688936_180688939del" "" "{PMID:Estan 2019:30770808}" "" "XM_005247813.2:c.1764_1767delACAG (Arg588Serfs*37)" "" "Germline" "yes" "" "0" "" "" "g.180971148_180971151del" "" "pathogenic (recessive)" "" "0000487462" "3" "90" "3" "180685882" "180685882" "del" "0" "00006" "FXR1_000002" "g.180685882del" "" "{PMID:Estan 2019:30770808}" "" "XM_005247813.3:c.1707delA" "father not available" "Germline" "yes" "" "0" "" "" "g.180968094del" "" "pathogenic (recessive)" "" "0000518569" "0" "50" "3" "180688033" "180688033" "subst" "0" "01943" "FXR1_000003" "g.180688033A>C" "" "" "" "FXR1(NM_001013439.2):c.1235A>C (p.H412P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180970245A>C" "" "VUS" "" "0000630919" "3" "90" "3" "180693986" "180693986" "subst" "0.0000122035" "00006" "FXR1_000004" "g.180693986T>A" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.180976198T>A" "" "pathogenic (recessive)" "" "0000630920" "3" "90" "3" "180693986" "180693986" "subst" "0.0000122035" "00006" "FXR1_000004" "g.180693986T>A" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.180976198T>A" "" "pathogenic (recessive)" "" "0000630921" "3" "90" "3" "180693986" "180693986" "subst" "0.0000122035" "00006" "FXR1_000004" "g.180693986T>A" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.180976198T>A" "" "pathogenic (recessive)" "" "0000676888" "0" "50" "3" "180702442" "180702442" "subst" "0" "01943" "DNAJC19_000004" "g.180702442G>T" "" "" "" "DNAJC19(NM_001190233.1):c.262C>A (p.Q88K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676889" "0" "30" "3" "180702494" "180702494" "subst" "0.00498589" "01943" "DNAJC19_000005" "g.180702494T>G" "" "" "" "DNAJC19(NM_001190233.1):c.210A>C (p.G70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 FXR1 ## 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}}" "0000329713" "00025489" "50" "11496" "0" "11499" "0" "c.*9630_*9633del" "r.(=)" "p.(=)" "" "0000487461" "00025489" "90" "1603" "790" "1603" "793" "c.1603+790_1603+793del" "r.(=)" "p.(=)" "" "0000487462" "00025489" "90" "1242" "0" "1242" "0" "c.1242del" "r.(?)" "p.(Glu414Aspfs*6)" "" "0000518569" "00025489" "50" "1490" "0" "1490" "0" "c.1490A>C" "r.(?)" "p.(His497Pro)" "" "0000630919" "00025489" "90" "1772" "0" "1772" "0" "c.1772T>A" "r.[(1772u>a),spl]" "p.[(Ile591Asn),?]" "" "0000630920" "00025489" "90" "1772" "0" "1772" "0" "c.1772T>A" "r.[(1772u>a),spl]" "p.[(Ile591Asn),?]" "" "0000630921" "00025489" "90" "1772" "0" "1772" "0" "c.1772T>A" "r.[(1772u>a),spl]" "p.[(Ile591Asn),?]" "" "0000676888" "00025489" "50" "10228" "0" "10228" "0" "c.*8362G>T" "r.(=)" "p.(=)" "" "0000676889" "00025489" "30" "10280" "0" "10280" "0" "c.*8414T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000241488" "0000487461" "0000241489" "0000487462" "0000276780" "0000630919" "0000276781" "0000630920" "0000276782" "0000630921"