### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NEUROD2) # 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}}" "NEUROD2" "neuronal differentiation 2" "17" "q12" "unknown" "NC_000017.10" "UD_136089546231" "" "https://www.LOVD.nl/NEUROD2" "" "1" "7763" "4761" "601725" "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/NEUROD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-05-30 12:43:32" "00000" "2026-01-20 18:57:21" ## 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}}" "00014494" "NEUROD2" "neuronal differentiation 2" "001" "NM_006160.3" "" "NP_006151.3" "" "" "" "-200" "2832" "1149" "37764175" "37760021" "" "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}}" "00065" "Rett syndrome" "Rett syndrome, congenital variant" "AD" "613454" "" "" "" "00008" "2012-10-31 14:44:58" "00006" "2022-05-30 12:45:18" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "06372" "DEE72" "encephalopathy, developmental and epileptic, 72" "AD" "618374" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-05-30 12:43:01" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NEUROD2" "06372" "NEUROD2" "06906" ## 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}}" "00410464" "" "" "" "1" "" "03559" "{PMID:Politano 2022:36446697}" "" "F" "no" "Italy" "" "0" "" "" "" "patient" "00426138" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, no other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "60DF8300" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00410464" "00065" "00426138" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00065, 00139, 06372, 06906 ## 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}}" "0000302570" "00065" "00410464" "03559" "Isolated (sporadic)" "05y10m" "Microcephaly\r\nHypotonia \r\nGait disturbance\r\nIntellectual disability\r\nAbsent speech\r\nAggressive behavior \r\nPartial agenesis of the corpus callosum\r\nAbsent septum pellucidum" "00y08m" "06y10m" "8m" "not available" "" "" "" "DEE72" "Rett/Rett-like syndrome" "0000317288" "00139" "00426138" "00006" "Familial, autosomal dominant" "2y" "" "" "" "" "" "" "" "" "DEE72" "intellectual disability" ## 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}}" "0000411731" "00410464" "1" "03559" "03559" "2022-05-26 13:58:28" "" "" "SEQ-NG" "DNA" "Blood" "WES (whole exome sequencing)" "0000427458" "00426138" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000411731" "NEUROD2" ## 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 = 8 "{{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}}" "0000616482" "0" "50" "17" "37762099" "37762099" "subst" "0" "02327" "NEUROD2_000002" "g.37762099G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39605846G>C" "" "VUS" "" "0000868951" "0" "90" "17" "37762465" "37762465" "subst" "0" "03559" "NEUROD2_000003" "g.37762465C>T" "0" "{PMID:Politano 2022:36446697}" "" "" "" "De novo" "" "" "0" "" "" "g.39606212C>T" "" "pathogenic (dominant)" "ACMG" "0000904818" "0" "70" "17" "37761913" "37761913" "subst" "0" "00006" "NEUROD2_000004" "g.37761913C>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.39605660C>A" "" "VUS" "" "0000914797" "0" "10" "17" "37762134" "37762134" "subst" "4.85164E-6" "02327" "NEUROD2_000005" "g.37762134G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001003163" "0" "30" "17" "37762064" "37762064" "subst" "0" "01804" "NEUROD2_000006" "g.37762064G>T" "" "" "" "NEUROD2(NM_006160.3):c.789C>A (p.(His263Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015515" "0" "50" "17" "37761752" "37761752" "subst" "0" "02325" "NEUROD2_000007" "g.37761752G>T" "" "" "" "NEUROD2(NM_006160.4):c.1101C>A (p.H367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055981" "0" "50" "17" "37761882" "37761882" "subst" "0" "01804" "NEUROD2_000008" "g.37761882T>C" "" "" "" "NEUROD2(NM_006160.4):c.971A>G (p.(His324Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066722" "0" "50" "17" "37762134" "37762134" "subst" "4.85164E-6" "02325" "NEUROD2_000005" "g.37762134G>C" "" "" "" "" "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 NEUROD2 ## Count = 8 "{{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}}" "0000616482" "00014494" "50" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Gln252Glu)" "" "0000868951" "00014494" "90" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Glu130Lys)" "" "0000904818" "00014494" "70" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Asp314Tyr)" "" "0000914797" "00014494" "10" "719" "0" "719" "0" "c.719C>G" "r.(?)" "p.(Pro240Arg)" "" "0001003163" "00014494" "30" "789" "0" "789" "0" "c.789C>A" "r.(?)" "p.(His263Gln)" "" "0001015515" "00014494" "50" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(His367Gln)" "" "0001055981" "00014494" "50" "971" "0" "971" "0" "c.971A>G" "r.(?)" "p.(His324Arg)" "" "0001066722" "00014494" "50" "719" "0" "719" "0" "c.719C>G" "r.(?)" "p.(Pro240Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000411731" "0000868951" "0000427458" "0000904818"