### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AQP4) # 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}}" "AQP4" "aquaporin 4" "18" "q11.2-q12.1" "unknown" "NG_029560.1" "UD_132085307180" "" "https://www.LOVD.nl/AQP4" "" "1" "637" "361" "600308" "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/AQP4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-21 14:46:37" "00000" "2024-04-19 20:27:30" ## 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}}" "00002726" "AQP4" "transcript variant a" "001" "NM_001650.4" "" "NP_001641.1" "" "" "" "-63" "5140" "972" "24445716" "24432007" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02477" "MLC" "leukoencephalopathy, megalencephalic, with subcortical cysts (MLC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-18 10:04:14" "07041" "MLC4" "leukoencephalopathy, megalencephalic, with subcortical cysts, type 4, remitting" "AR" "620448" "" "" "" "00006" "2023-11-09 18:31:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AQP4" "07041" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00441739" "" "" "" "1" "" "04518" "{PMID:Passchier 2023:37143309}" "2-generation family, 2 affected sibs, unaffected heterozygous parents" "M" "yes" "" "" "0" "" "" "" "Fam4Pat4-EL788" "00441740" "" "" "" "1" "" "04518" "{PMID:Passchier 2023:37143309}" "sib" "F" "yes" "" "" "0" "" "" "" "Fam4Pat5-EL950" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00441739" "02477" "00441740" "02477" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02477, 07041 ## Count = 2 "{{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}}" "0000331164" "02477" "00441739" "04518" "Familial, autosomal recessive" "16y" "highly delayed initial cognitive development; highly delayed initial motor development; 6m-increased OFC; 4-5y-walk; no cognitive decline; in childhood agitation, impulsivity, hyperactivity and sleep disorder, later improvement; no history psychiatric diagnoses; 1y-severe epilepsy; frequent status epilepticus; OFC 57.5cm (normal); clumsiness; no spasticity of arms; no spasticity of legs; gait/truncal ataxia; appendicular ataxia; dystonia; mild rigidity; dysarthria; no dysphagia; severe cognitive deficit; no autistic features" "" "" "" "" "" "" "" "MLC4" "brain oedema" "0000331165" "02477" "00441740" "04518" "Familial, autosomal recessive" "13y" "mildly delayed initial cognitive development; highly delayed initial motor development; 6m-increased OFC; 2y-walk; no cognitive decline; impulsivity, hyperactivity in early childhood, later normalization; no history psychiatric diagnoses; 1y-occasional generalized seizures; no status epilepticus; OFC 58 cm (>+2SD); clumsiness; no spasticity of arms; no spasticity of legs; no gait/truncal ataxia; no appendicular ataxia; no dystonia; no rigidity; no dysarthria; mild cognitive deficit; no autistic features" "" "" "" "" "" "" "" "MLC4" "brain oedema" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000443225" "00441739" "1" "04518" "00006" "2023-11-09 19:08:47" "" "" "arraySNP;SEQ" "DNA" "" "genes screened MLC1, GLIALCAM, GPRC5B, AQP4" "0000443226" "00441740" "1" "04518" "00006" "2023-11-09 19:08:47" "" "" "arraySNP;SEQ" "DNA" "" "genes screened MLC1, GLIALCAM, GPRC5B, AQP4" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000443225" "AQP4" "0000443226" "AQP4" ## 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 = 6 "{{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}}" "0000273562" "0" "50" "18" "24722713" "24722713" "subst" "0" "01943" "CHST9_000001" "g.24722713C>T" "" "" "" "CHST9(NM_031422.5):c.61G>A (p.G21R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27142749C>T" "" "VUS" "" "0000944617" "3" "90" "18" "24440786" "24440786" "subst" "1.62437E-5" "04518" "AQP4_000001" "g.24440786C>T" "" "{PMID:Passchier 2023:37143309}" "" "" "" "Germline" "" "rs148498248" "0" "" "" "g.26860822C>T" "" "pathogenic (recessive)" "" "0000944618" "3" "90" "18" "24440786" "24440786" "subst" "1.62437E-5" "04518" "AQP4_000001" "g.24440786C>T" "" "{PMID:Passchier 2023:37143309}" "" "" "" "Germline" "" "rs148498248" "0" "" "" "g.26860822C>T" "" "pathogenic (recessive)" "" "0000982987" "0" "50" "18" "24442328" "24442328" "subst" "4.06237E-6" "01804" "AQP4_000002" "g.24442328C>T" "" "" "" "AQP4(NM_001650.7):c.265G>A (p.(Gly89Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982988" "0" "50" "18" "24496944" "24496944" "subst" "0" "01804" "AQP4_000003" "g.24496944G>C" "" "" "" "CHST9(NM_031422.6):c.611C>G (p.(Ser204Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982989" "0" "50" "18" "24497155" "24497155" "subst" "0" "01804" "AQP4_000004" "g.24497155C>T" "" "" "" "CHST9(NM_031422.6):c.400G>A (p.(Glu134Lys))" "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 AQP4 ## Count = 6 "{{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}}" "0000273562" "00002726" "50" "-277060" "0" "-277060" "0" "c.-277060G>A" "r.(?)" "p.(=)" "" "0000944617" "00002726" "90" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Ala215Thr)" "4" "0000944618" "00002726" "90" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Ala215Thr)" "4" "0000982987" "00002726" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Ser)" "" "0000982988" "00002726" "50" "-51291" "0" "-51291" "0" "c.-51291C>G" "r.(?)" "p.(=)" "" "0000982989" "00002726" "50" "-51502" "0" "-51502" "0" "c.-51502G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000443225" "0000944617" "0000443226" "0000944618"