### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = WDR69)
# 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}}"
"WDR69" "WD repeat domain 69" "2" "q36.3" "unknown" "NC_000002.11" "UD_134712033625" "" "https://www.LOVD.nl/DAW1" "" "1" "26383" "164781" "620279" "0" "0" "0" "1" "NOTE: gene name changed from WDR69 to DAW1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from WDR69 to DAW1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-21 16:42:04" "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}}"
"00022785" "WDR69" "WD repeat domain 69" "001" "NM_178821.1" "" "NP_849143.1" "" "" "" "-79" "1590" "1248" "228736327" "228789026" "" "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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00438203" "" "" "" "1" "" "04362" "{PMID:Hamdan 2017:29100083}" "" "" "" "Canada" "" "0" "" "refractory response to epilepsy treatment" "" "HSJ0782"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00438203" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## Count = 1
"{{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}}"
"0000328107" "00198" "00438203" "04362" "Unknown" "" "developmental epileptic encephalopathy; developmental delay" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000439684" "00438203" "1" "04362" "00006" "2023-08-14 14:11:00" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000439684" "GNAO1"
## 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 = 7
"{{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}}"
"0000936202" "0" "10" "2" "228754587" "228754587" "subst" "4.31947E-5" "00006" "WDR69_000001" "g.228754587G>A" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.227889871G>A" "" "benign" ""
"0000975070" "0" "50" "2" "228762983" "228762983" "subst" "1.70371E-5" "02325" "WDR69_000002" "g.228762983C>A" "" "" "" "DAW1(NM_178821.3):c.526C>A (p.H176N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975071" "0" "30" "2" "228762987" "228762987" "subst" "0.00291214" "01804" "WDR69_000003" "g.228762987C>T" "" "" "" "DAW1(NM_178821.3):c.530C>T (p.(Thr177Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001033075" "0" "50" "2" "228771023" "228771023" "subst" "0.000663313" "01804" "WDR69_000004" "g.228771023T>C" "" "" "" "DAW1(NM_178821.3):c.827T>C (p.(Ile276Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001033076" "0" "30" "2" "228783580" "228783580" "subst" "2.84717E-5" "01804" "WDR69_000005" "g.228783580G>A" "" "" "" "DAW1(NM_178821.3):c.1050+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001033077" "0" "50" "2" "228786167" "228786167" "subst" "4.06141E-5" "01804" "WDR69_000006" "g.228786167C>T" "" "" "" "DAW1(NM_178821.3):c.1103C>T (p.(Thr368Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001033078" "0" "30" "2" "228786283" "228786283" "subst" "0.000403466" "01804" "WDR69_000007" "g.228786283G>A" "" "" "" "DAW1(NM_178821.3):c.1213+6G>A" "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 WDR69
## Count = 7
"{{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}}"
"0000936202" "00022785" "10" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Ala43=)" "3"
"0000975070" "00022785" "50" "526" "0" "526" "0" "c.526C>A" "r.(?)" "p.(His176Asn)" ""
"0000975071" "00022785" "30" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Thr177Ile)" ""
"0001033075" "00022785" "50" "827" "0" "827" "0" "c.827T>C" "r.(?)" "p.(Ile276Thr)" ""
"0001033076" "00022785" "30" "1050" "8" "1050" "8" "c.1050+8G>A" "r.(=)" "p.(=)" ""
"0001033077" "00022785" "50" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Thr368Met)" ""
"0001033078" "00022785" "30" "1213" "6" "1213" "6" "c.1213+6G>A" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000439684" "0000936202"