### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DALRD3)
# 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}}"
"DALRD3"	"DALR anticodon binding domain containing 3"	"3"	"p21.31"	"unknown"	"NC_000003.11"	"UD_132464498950"	""	"https://www.LOVD.nl/DALRD3"	""	"1"	"25536"	"55152"	"618904"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2024-09-06 15:12:20"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00025943"	"DALRD3"	"transcript variant 1"	"010"	"NM_001009996.2"	""	"NP_001009996.1"	""	""	""	"-44"	"1732"	"1632"	"49056041"	"49052921"	"00006"	"2024-09-06 15:04:13"	""	""


## 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}}"
"06906"	"DEE"	"encephalopathy, developmental and epileptic"	""	""	""	""	""	"00006"	"2022-04-07 09:24:23"	""	""
"07102"	"DEE86"	"encephalopathy, developmental and epileptic, type 86"	"AR"	"618910"	""	""	""	"00006"	"2024-09-06 15:12:00"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"DALRD3"	"06906"
"DALRD3"	"07102"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00453487"	""	""	""	"2"	""	"00006"	"{PMID:Lentini 2020:32427860}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives"	"M"	""	"Saudi Arabia"	""	"0"	""	""	""	"FamPat1/19DG0509"
"00453488"	""	""	"00453487"	"1"	""	"00006"	"{PMID:Lentini 2020:32427860}"	"sister"	"F"	""	""	""	"0"	""	""	""	"FamPat2/19DG0510"
"00453489"	""	""	""	"1"	""	"00006"	"{DOI:Zhang 2024:10.1101/2024.05.21.24307194}"	""	"M"	""	""	""	"0"	""	""	""	"patient"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00453487"	"06906"
"00453488"	"06906"
"00453489"	"06906"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 06906, 07102
## Count = 3
"{{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/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000342148"	"06906"	"00453487"	"00006"	"Familial, autosomal recessive"	"11y"	"see paper; ..., normal spontaneous vaginal delivery, history of placental insufficiency and oligohydramnios; birth weight 2.25kg (−2.2 SD); severe developmental delay; not mobile; no speech; 7m-seizures, myoclonic jerks, remains frequent and poorly controlled by antiepileptic medications; EEG independent multifocal epileptic discharges predominantly over anterior head region bilaterally as well as over the right temporal and right parietal regions; axial and peripheral hypotonia with dystonic like movement and generalized muscle wasting; no microcephaly; mild diffuse brain parenchymal volume loss with diffuse paucity of myelin within brain parenchyma; moderate-severe conductive hearing loss left ear, mild conductive hearing loss right ear; subtle facial dysmorphia, small left ear; severe gastroesophageal reflux disease necessitating GT tube placement and fundoplication at age 4 years, no visual tracking or social smile"	""	""	""	""	""	""	"DEE86"	"epileptic encephalopathy"
"0000342149"	"06906"	"00453488"	"00006"	"Familial, autosomal recessive"	"07y"	"see paper; ..., birth Cesarean section due to breech presentation and oligohydramnios in addition to placental insufficiency, weight 2.5kg (4th centile); severe developmental delay; immobile; no speech; 6m-epilepsy ensued, initially as brief episodes of flexion tonic spasm head followed by myoclonic seizures, reasonably controlled by antiepileptic medications; EEG markedly high voltage and slow background for age along with slow generalized polyspike and wave activity; central and peripheral hypotonia with dystonic like movements and generalized muscle wasting; microcephaly; brain normal topographical and morphological appearance infratentorial and supratentorial structures; subtle facial dysmorphia; 1d-vomiting and chocking; mild congenital heart disease resolving spontaneously; ectopic right kidney; bilateral optic disc pallor"	""	""	""	""	""	""	"DEE86"	"epileptic encephalopathy"
"0000342150"	"06906"	"00453489"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., uncomplicated pregnancy, born\r\nterm by Cesarean section (previous Cesarean section); severe developmental delay; progressively immobile, can walk some steps unaided; childhood seizures  after febrile episode, regression psychomotor skills, focal clonic seizures with impaired awareness to bilateral seizures, often in clusters up to 10, during night/early morning, as teenager, interictal subtle myoclonus hands\r\nand fingers; EEG intermittent focal epileptic phenomena in temporal regions, slow background activity without normal differentiation, high amplitude slow waves over frontotemporal regions; axial hypotonic, extremities slightly hypertonic, initially higher, later low tendon reflexes with extensor plantar responses, some ataxia of gait and hands; no mmicrocephaly; brain enlargement of central and peripheral CSF spaces, normal aspect white matter, basal ganglia, thalamus, and brainstem, arteriovenous malformation right cerebellar hemisphere, otherwise normal cerebellum, thickened skull by broad diploic space"	""	""	""	""	""	""	"DEE86"	"epileptic encephalopathy"


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000455101"	"00453487"	"1"	"00006"	"00006"	"2024-09-06 15:23:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455102"	"00453488"	"1"	"00006"	"00006"	"2024-09-06 15:31:34"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455103"	"00453489"	"1"	"00006"	"00006"	"2024-09-06 15:48:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## 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 = 22
"{{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}}"
"0000329400"	"0"	"50"	"3"	"49055133"	"49055133"	"subst"	"0"	"01804"	"DALRD3_000001"	"g.49055133C>T"	""	""	""	"DALRD3(NM_001009996.2):c.631G>A (p.(Gly211Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49017700C>T"	""	"VUS"	""
"0000329401"	"0"	"50"	"3"	"49055837"	"49055837"	"subst"	"6.04763E-6"	"01804"	"DALRD3_000002"	"g.49055837C>G"	""	""	""	"DALRD3(NM_001009996.2):c.161G>C (p.(Gly54Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49018404C>G"	""	"VUS"	""
"0000520153"	"0"	"50"	"3"	"49051200"	"49051200"	"subst"	"4.46878E-5"	"01943"	"P4HTM_000006"	"g.49051200A>G"	""	""	""	"WDR6(NM_001320546.2):c.2155A>G (p.T719A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49013767A>G"	""	"VUS"	""
"0000654984"	"0"	"30"	"3"	"49059582"	"49059582"	"subst"	"3.00796E-5"	"01943"	"IMPDH2_000003"	"g.49059582C>T"	""	""	""	"NDUFAF3(NM_199069.1):c.5C>T (p.A2V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49022149C>T"	""	"likely benign"	""
"0000677031"	"0"	"50"	"3"	"49059789"	"49059789"	"subst"	"2.52442E-5"	"01943"	"IMPDH2_000005"	"g.49059789C>G"	""	""	""	"NDUFAF3(NM_199069.1):c.88C>G (p.R30G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677032"	"0"	"50"	"3"	"49059873"	"49059873"	"subst"	"0"	"01943"	"IMPDH2_000006"	"g.49059873A>G"	""	""	""	"NDUFAF3(NM_199073.1):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677033"	"0"	"30"	"3"	"49059911"	"49059911"	"subst"	"0.000102244"	"01943"	"IMPDH2_000007"	"g.49059911A>C"	""	""	""	"NDUFAF3(NM_199069.1):c.210A>C (p.I70=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719489"	"0"	"50"	"3"	"49041570"	"49041570"	"subst"	"0"	"02325"	"P4HTM_000007"	"g.49041570G>A"	""	""	""	"P4HTM(NM_177938.2):c.764G>A (p.R255Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719490"	"0"	"50"	"3"	"49042355"	"49042355"	"del"	"0"	"02329"	"P4HTM_000001"	"g.49042355del"	""	""	""	"P4HTM(NM_177938.2):c.949delG (p.V317Ffs*30)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719491"	"0"	"70"	"3"	"49053104"	"49053104"	"subst"	"2.43706E-5"	"02325"	"DALRD3_000003"	"g.49053104G>A"	""	""	""	"DALRD3(NM_001009996.3):c.1549C>T (p.R517C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000719492"	"0"	"90"	"3"	"49060520"	"49060521"	"del"	"0"	"01943"	"IMPDH2_000008"	"g.49060520_49060521del"	""	""	""	"NDUFAF3(NM_199069.1):c.470_471delGT (p.C157Sfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000801285"	"0"	"30"	"3"	"49060125"	"49060125"	"subst"	"0.000255854"	"01943"	"DALRD3_000004"	"g.49060125C>G"	""	""	""	"NDUFAF3(NM_199069.1):c.271-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801286"	"0"	"70"	"3"	"49060411"	"49060411"	"subst"	"0"	"01943"	"DALRD3_000005"	"g.49060411T>G"	""	""	""	"NDUFAF3(NM_199069.1):c.438+2T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000962818"	"0"	"30"	"3"	"49042318"	"49042318"	"subst"	"0.000115747"	"02330"	"P4HTM_000012"	"g.49042318G>A"	""	""	""	"P4HTM(NM_177938.2):c.912G>A (p.S304=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000962819"	"0"	"30"	"3"	"49043492"	"49043492"	"subst"	"4.0779E-6"	"02330"	"P4HTM_000013"	"g.49043492C>T"	""	""	""	"P4HTM(NM_177938.2):c.1348-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993768"	"0"	"30"	"3"	"49042515"	"49042515"	"subst"	"0.000443223"	"02330"	"P4HTM_000014"	"g.49042515T>G"	""	""	""	"P4HTM(NM_177938.2):c.1109T>G (p.L370R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001007105"	"3"	"90"	"3"	"49053669"	"49053669"	"subst"	"4.06105E-6"	"00006"	"DALRD3_000006"	"g.49053669G>T"	""	"{PMID:Lentini 2020:32427860}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49016236G>T"	""	"pathogenic (recessive)"	""
"0001007106"	"3"	"90"	"3"	"49053669"	"49053669"	"subst"	"4.06105E-6"	"00006"	"DALRD3_000006"	"g.49053669G>T"	""	"{PMID:Lentini 2020:32427860}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49016236G>T"	""	"pathogenic (recessive)"	""
"0001007107"	"3"	"90"	"3"	"49053104"	"49053104"	"subst"	"2.43706E-5"	"00006"	"DALRD3_000003"	"g.49053104G>A"	""	"{DOI:Zhang 2024:10.1101/2024.05.21.24307194}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49015671G>A"	""	"likely pathogenic (recessive)"	""
"0001034029"	"0"	"50"	"3"	"49050553"	"49050553"	"subst"	"0"	"01804"	"P4HTM_000015"	"g.49050553G>A"	""	""	""	"WDR6(NM_018031.6):c.1586G>A (p.(Gly529Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034030"	"0"	"50"	"3"	"49054042"	"49054042"	"subst"	"0.000108968"	"01804"	"NDUFAF3_000001"	"g.49054042C>T"	""	""	""	"DALRD3(NM_001009996.3):c.1063+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034031"	"0"	"50"	"3"	"49062387"	"49062387"	"subst"	"4.06075E-6"	"01804"	"IMPDH2_000016"	"g.49062387C>T"	""	""	""	"IMPDH2(NM_000884.3):c.1237G>A (p.(Gly413Ser))"	"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 DALRD3
## Count = 22
"{{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}}"
"0000329400"	"00025943"	"50"	"631"	"0"	"631"	"0"	"c.631G>A"	"r.(?)"	"p.(Gly211Ser)"	""
"0000329401"	"00025943"	"50"	"161"	"0"	"161"	"0"	"c.161G>C"	"r.(?)"	"p.(Gly54Ala)"	""
"0000520153"	"00025943"	"50"	"3453"	"0"	"3453"	"0"	"c.*1821T>C"	"r.(=)"	"p.(=)"	""
"0000654984"	"00025943"	"30"	"-3585"	"0"	"-3585"	"0"	"c.-3585G>A"	"r.(?)"	"p.(=)"	""
"0000677031"	"00025943"	"50"	"-3792"	"0"	"-3792"	"0"	"c.-3792G>C"	"r.(?)"	"p.(=)"	""
"0000677032"	"00025943"	"50"	"-3876"	"0"	"-3876"	"0"	"c.-3876T>C"	"r.(?)"	"p.(=)"	""
"0000677033"	"00025943"	"30"	"-3914"	"0"	"-3914"	"0"	"c.-3914T>G"	"r.(?)"	"p.(=)"	""
"0000719489"	"00025943"	"50"	"13083"	"0"	"13083"	"0"	"c.*11451C>T"	"r.(=)"	"p.(=)"	""
"0000719490"	"00025943"	"50"	"12298"	"0"	"12298"	"0"	"c.*10666del"	"r.(?)"	"p.(=)"	""
"0000719491"	"00025943"	"70"	"1549"	"0"	"1549"	"0"	"c.1549C>T"	"r.(?)"	"p.(Arg517Cys)"	""
"0000719492"	"00025943"	"90"	"-4521"	"0"	"-4520"	"0"	"c.-4521_-4520del"	"r.(?)"	"p.(=)"	""
"0000801285"	"00025943"	"30"	"-4128"	"0"	"-4128"	"0"	"c.-4128G>C"	"r.(?)"	"p.(=)"	""
"0000801286"	"00025943"	"70"	"-4414"	"0"	"-4414"	"0"	"c.-4414A>C"	"r.(?)"	"p.(=)"	""
"0000962818"	"00025943"	"30"	"12335"	"0"	"12335"	"0"	"c.*10703C>T"	"r.(=)"	"p.(=)"	""
"0000962819"	"00025943"	"30"	"11161"	"0"	"11161"	"0"	"c.*9529G>A"	"r.(=)"	"p.(=)"	""
"0000993768"	"00025943"	"30"	"12138"	"0"	"12138"	"0"	"c.*10506A>C"	"r.(=)"	"p.(=)"	""
"0001007105"	"00025943"	"90"	"1251"	"0"	"1251"	"0"	"c.1251C>A"	"r.(?)"	"p.(Tyr417*)"	""
"0001007106"	"00025943"	"90"	"1251"	"0"	"1251"	"0"	"c.1251C>A"	"r.(?)"	"p.(Tyr417*)"	""
"0001007107"	"00025943"	"90"	"1549"	"0"	"1549"	"0"	"c.1549C>T"	"r.(?)"	"p.(Arg517Cys)"	""
"0001034029"	"00025943"	"50"	"4100"	"0"	"4100"	"0"	"c.*2468C>T"	"r.(=)"	"p.(=)"	""
"0001034030"	"00025943"	"50"	"1063"	"3"	"1063"	"3"	"c.1063+3G>A"	"r.spl?"	"p.?"	""
"0001034031"	"00025943"	"50"	"-6390"	"0"	"-6390"	"0"	"c.-6390G>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000455101"	"0001007105"
"0000455102"	"0001007106"
"0000455103"	"0001007107"