### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAGE3) # 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}}" "LAGE3" "L antigen family, member 3" "X" "q28" "unknown" "NC_000023.10" "UD_136088082991" "" "https://www.LOVD.nl/LAGE3" "" "1" "26058" "8270" "300060" "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/LAGE3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-06 17:29:47" "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}}" "00010935" "LAGE3" "L antigen family, member 3" "001" "NM_006014.3" "" "NP_006005.2" "" "" "" "-342" "1474" "432" "153707596" "153705241" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "06856" "GAMOS2" "Galloway-Mowat syndrome 2, X-linked" "XLR" "301006" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LAGE3" "06856" ## 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}}" "00050693" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00183135" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamMRX75/D13" "00431270" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "maternal uncle may be similarly affected" "M" "no" "" "" "0" "" "" "Europe" "B65" "00431273" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, another male affected, younger brother died 8y (variant confirmed)" "M" "no" "Japan" "25y" "0" "" "" "" "B60" "00431279" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "Taiwan" "8m" "0" "" "" "China" "16M0417" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050693" "00198" "00183135" "00187" "00431270" "00399" "00431273" "00399" "00431279" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 00399, 06856 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000037305" "00198" "00050693" "00006" "Isolated (sporadic)" "" "drooling, unsteady gait, abnormal facial shape, lactose intolerance" "" "" "" "" "" "" "" "" "" "" "" "" "0000143889" "00187" "00183135" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000321870" "00399" "00431270" "00006" "Familial, autosomal recessive" "" "4m-proteinuria; 5m-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 4m-minimal change nephrotic syndrome; primary microcephaly, seizures, spasticity, developmental delay, severe intellectual disability; MRI cranial enlarged subdural/subarachnoid spaces, cerebellar atrophy/hypoplasia, abnormal myelination vision/hearing: nystagmus skeletal: short stature; bilateral vur III, swallowing difficulties (percutaneous endoscopic gastrostomy); infantile nephrotic syndrome" "" "" "" "" "" "" "" "" "" "GAMOS2" "nephrotic syndrome" "" "0000321873" "00399" "00431273" "00006" "Familial, autosomal recessive" "25y" "2y-proteinuria; 8y-end stage renal disease; 25y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, intellectual disability, hypotonia, dysmetria; MRI cranial polymicrogyria, poor myelination of the cerebral white matter, diffuse cerebellar atrophy; narrow forehead, high arched palate, micrognathia skeletal: scoliosis, arachnodactyly; nephrotic syndrome" "" "" "" "" "" "" "" "" "" "GAMOS2" "nephrotic syndrome" "" "0000321879" "00399" "00431279" "00006" "Familial, autosomal recessive" "8m" "3m-proteinuria; 7m-end stage renal disease; 8m-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, hypotonia with intermittent spasticity, epilepsy; MRI cranial mild brain atrophy; small, narrow forehead, micrognathia skeletal: short stature; intrauterine growth restriction (1806 g at 36w ga), severe maternal preeclampsia, feeding difficulty, hypertension, multiple episodes of sepsis, spontaneous bacterial peritonitis, multiple bullous skin defects; infantile nephrotic syndrome" "" "" "" "" "" "" "" "" "" "GAMOS2" "nephrotic syndrome" "" ## 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}}" "0000050638" "00050693" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000184093" "00183135" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000432682" "00431270" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432685" "00431273" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432691" "00431279" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000184093" "GDI1" ## 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 = 17 "{{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}}" "0000079618" "21" "90" "X" "153565841" "154722429" "dup" "0" "00006" "DKC1_000000" "g.153565841_154722429dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.154337626_155494214dup" "" "pathogenic" "" "0000336255" "0" "50" "X" "153707076" "153707076" "subst" "0.00163825" "01804" "LAGE3_000002" "g.153707076G>A" "" "" "" "LAGE3(NM_006014.3):c.179C>T (p.(Pro60Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154478737G>A" "" "VUS" "" "0000336256" "0" "50" "X" "153707209" "153707209" "subst" "0" "01804" "LAGE3_000003" "g.153707209C>G" "" "" "" "LAGE3(NM_006014.3):c.46G>C (p.(Asp16His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154478870C>G" "" "VUS" "" "0000408062" "20" "90" "X" "153570408" "153861108" "dup" "0" "00006" "FLNA_000307" "g.153570408_153861108dup" "" "{PMID:Hu 2016:25644381}" "" "GDI1" "" "Germline" "" "" "0" "" "" "g.154342193_154632893dup" "" "pathogenic" "" "0000574922" "0" "30" "X" "153700982" "153700982" "subst" "0.000156752" "01943" "LAGE3_000004" "g.153700982G>A" "" "" "" "PLXNA3(NM_017514.4):c.5570G>A (p.R1857Q), PLXNA3(NM_017514.5):c.5570G>A (p.(Arg1857Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154472639G>A" "" "likely benign" "" "0000574923" "0" "30" "X" "153707209" "153707209" "subst" "0.0033394" "01804" "LAGE3_000005" "g.153707209C>T" "" "" "" "LAGE3(NM_006014.3):c.46G>A (p.(Asp16Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154478870C>T" "" "likely benign" "" "0000810163" "0" "30" "X" "153707136" "153707136" "subst" "0" "01943" "LAGE3_000007" "g.153707136G>T" "" "" "" "LAGE3(NM_006014.4):c.119C>A (p.A40E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856468" "0" "30" "X" "153707226" "153707226" "subst" "0" "01943" "LAGE3_000009" "g.153707226C>T" "" "" "" "LAGE3(NM_006014.4):c.29G>A (p.G10E, p.(Gly10Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867221" "0" "30" "X" "153707084" "153707084" "subst" "0" "01943" "LAGE3_000008" "g.153707084T>C" "" "" "" "LAGE3(NM_006014.4):c.171A>G (p.R57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915656" "0" "30" "X" "153706746" "153706746" "subst" "0.000187543" "02326" "LAGE3_000010" "g.153706746G>T" "" "" "" "LAGE3(NM_006014.4):c.193C>A (p.L65I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918239" "20" "70" "X" "153706623" "153706623" "subst" "0" "00006" "LAGE3_000012" "g.153706623C>A" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.154478284C>A" "" "likely pathogenic (recessive)" "" "0000918242" "20" "70" "X" "153706305" "153706305" "subst" "0" "00006" "LAGE3_000011" "g.153706305A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.154477966A>G" "" "likely pathogenic (recessive)" "" "0000918248" "20" "70" "X" "153707066" "153707066" "subst" "0" "00006" "LAGE3_000013" "g.153707066C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.154478727C>T" "" "likely pathogenic (recessive)" "" "0001006593" "0" "30" "X" "153707121" "153707121" "subst" "0" "01804" "LAGE3_000014" "g.153707121G>A" "" "" "" "LAGE3(NM_006014.4):c.134C>T (p.(Pro45Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027466" "0" "30" "X" "153707164" "153707164" "subst" "0.00202299" "02326" "LAGE3_000015" "g.153707164C>T" "" "" "" "LAGE3(NM_006014.4):c.91G>A (p.A31T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044215" "0" "30" "X" "153700982" "153700982" "subst" "0.000156752" "01804" "LAGE3_000004" "g.153700982G>A" "" "" "" "PLXNA3(NM_017514.4):c.5570G>A (p.R1857Q), PLXNA3(NM_017514.5):c.5570G>A (p.(Arg1857Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044216" "0" "50" "X" "153707226" "153707226" "subst" "0" "01804" "LAGE3_000009" "g.153707226C>T" "" "" "" "LAGE3(NM_006014.4):c.29G>A (p.G10E, p.(Gly10Glu))" "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 LAGE3 ## Count = 17 "{{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}}" "0000079618" "00010935" "00" "-1015175" "0" "140874" "0" "c.-1015175_*140442dup" "" "" "" "0000336255" "00010935" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Pro60Leu)" "" "0000336256" "00010935" "50" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Asp16His)" "" "0000408062" "00010935" "00" "-153854" "0" "136307" "0" "c.-153854_*135875dup" "r.0?" "p.0?" "" "0000574922" "00010935" "30" "5733" "0" "5733" "0" "c.*5301C>T" "r.(=)" "p.(=)" "" "0000574923" "00010935" "30" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Asp16Asn)" "" "0000810163" "00010935" "30" "119" "0" "119" "0" "c.119C>A" "r.(?)" "p.(Ala40Glu)" "" "0000856468" "00010935" "30" "29" "0" "29" "0" "c.29G>A" "r.(?)" "p.(Gly10Glu)" "" "0000867221" "00010935" "30" "171" "0" "171" "0" "c.171A>G" "r.(?)" "p.(Arg57=)" "" "0000915656" "00010935" "30" "193" "0" "193" "0" "c.193C>A" "r.(?)" "p.(Leu65Ile)" "" "0000918239" "00010935" "70" "316" "0" "316" "0" "c.316G>T" "r.(?)" "p.(Val106Phe)" "2" "0000918242" "00010935" "70" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Phe137Ser)" "3" "0000918248" "00010935" "70" "188" "1" "188" "1" "c.188+1G>A" "r.188_189ins[a;188+2_189-1]" "p.Phe63LeufsTer63" "1" "0001006593" "00010935" "30" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Pro45Leu)" "" "0001027466" "00010935" "30" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Ala31Thr)" "" "0001044215" "00010935" "30" "5733" "0" "5733" "0" "c.*5301C>T" "r.(=)" "p.(=)" "" "0001044216" "00010935" "50" "29" "0" "29" "0" "c.29G>A" "r.(?)" "p.(Gly10Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050638" "0000079618" "0000184093" "0000408062" "0000432682" "0000918239" "0000432685" "0000918242" "0000432691" "0000918248"