### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNF13) # 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}}" "RNF13" "ring finger protein 13" "3" "q25.1" "unknown" "NC_000003.11" "UD_132612669613" "" "https://www.LOVD.nl/RNF13" "" "1" "10057" "11342" "609247" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/RNF13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-13 14:10:15" "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}}" "00025813" "RNF13" "transcript variant 4" "002" "NM_183381.2" "" "NP_899237.1" "" "" "" "-682" "2181" "1146" "149530475" "149679926" "00006" "2023-02-26 15:13:11" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06586" "EIEE73" "Epileptic encephalopathy, early infantile, 73" "AD" "618379" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNF13" "06586" ## 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}}" "00213622" "" "" "" "1" "" "00006" "{PMID:Edvardson 2019:30595371}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "02y09m" "0" "" "" "" "30595371-Pat1" "00213623" "" "" "" "1" "" "00006" "{PMID:Edvardson 2019:30595371}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30595371-Pat2" "00213624" "" "" "" "1" "" "00006" "{PMID:Edvardson 2019:30595371}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30595371-Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00213622" "00198" "00213623" "00198" "00213624" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06586 ## Count = 3 "{{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}}" "0000162075" "00198" "00213622" "00006" "Isolated (sporadic)" "02y09m" "feeding difficulties, irritability, increased tone; 7w-multiple seizures; profound intellectual disability; deaf bilaterally; MRI-brain thin corpus callosum; birth head circumference 31.5cm (3rd percentile); died at 33m" "" "" "" "" "" "" "" "" "" "" "" "0000162076" "00198" "00213623" "00006" "Isolated (sporadic)" "08y" "respiratory distress, irritability, low central tone, arching, feeding difficulties; 7m-infantile spasms; birth head circumference 30.0cm (-2.6 SD); profound intellectual disability; normal hearing; dysmorphic features, failure to thrive, inguinal hernia, contractures, spastic extremities, scoliosis, hip dysplasia, delayed bone age, idiopathic high B12 levels; MRI-brain delayed myelination, thin corpus callosum, subsequent volume loss" "" "" "" "" "" "" "" "" "" "" "" "0000162077" "00198" "00213624" "00006" "Isolated (sporadic)" "00y21m" "seizures; birth head circumference 29.5cm (-2.8 SD); 2m-general tonic clonic seizures; profound intellectual disability; deaf bilaterally; contractures, cataract, failure to thrive, inguinal hernia" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000214691" "00213622" "1" "00006" "00006" "2019-01-13 13:53:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214692" "00213623" "1" "00006" "00006" "2019-01-13 14:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000214693" "00213624" "1" "00006" "00006" "2019-01-13 14:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000214691" "RNF13" "0000214692" "RNF13" "0000214693" "RNF13" ## 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 = 11 "{{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}}" "0000447044" "0" "90" "3" "149678677" "149678677" "subst" "0" "00006" "RNF13_000001" "g.149678677T>C" "" "{PMID:Edvardson 2019:30595371}" "" "" "" "De novo" "" "" "0" "" "" "g.149960890T>C" "" "pathogenic (dominant)" "" "0000447045" "0" "90" "3" "149678680" "149678680" "subst" "0" "00006" "RNF13_000002" "g.149678680T>C" "" "{PMID:Edvardson 2019:30595371}" "" "" "" "De novo" "" "" "0" "" "" "g.149960893T>C" "" "pathogenic (dominant)" "" "0000447046" "0" "90" "3" "149678680" "149678680" "subst" "0" "00006" "RNF13_000002" "g.149678680T>C" "" "{PMID:Edvardson 2019:30595371}" "" "" "" "De novo" "" "" "0" "" "" "g.149960893T>C" "" "pathogenic (dominant)" "" "0000518299" "0" "30" "3" "149563829" "149563829" "subst" "0" "01804" "RNF13_000003" "g.149563829G>C" "" "" "" "RNF13(NM_007282.4):c.16G>C (p.(Gly6Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149846042G>C" "" "likely benign" "" "0000518300" "0" "30" "3" "149639021" "149639021" "subst" "0.000271281" "01804" "RNF13_000004" "g.149639021A>G" "" "" "" "RNF13(NM_007282.4):c.700+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149921234A>G" "" "likely benign" "" "0000801051" "0" "30" "3" "149613256" "149613256" "subst" "0.000729036" "02325" "RNF13_000005" "g.149613256G>T" "" "" "" "RNF13(NM_007282.4):c.322-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911846" "0" "30" "3" "149589903" "149589903" "subst" "0.000246668" "02325" "RNF13_000006" "g.149589903G>C" "" "" "" "RNF13(NM_007282.4):c.283G>C (p.V95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975630" "0" "30" "3" "149563935" "149563935" "subst" "0" "01804" "RNF13_000007" "g.149563935C>G" "" "" "" "RNF13(NM_183381.3):c.114+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993364" "0" "30" "3" "149678834" "149678836" "del" "0" "01804" "PFN2_000002" "g.149678834_149678836del" "" "" "" "RNF13(NM_007282.4):c.1089_1091delCGT (p.V365del), RNF13(NM_183381.2):c.1089_1091delCGT (p.(Val364del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993365" "0" "50" "3" "149678834" "149678836" "del" "0" "02325" "PFN2_000002" "g.149678834_149678836del" "" "" "" "RNF13(NM_007282.4):c.1089_1091delCGT (p.V365del), RNF13(NM_183381.2):c.1089_1091delCGT (p.(Val364del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033754" "0" "30" "3" "149678862" "149678862" "subst" "1.63649E-5" "01804" "PFN2_000003" "g.149678862C>T" "" "" "" "RNF13(NM_183381.3):c.1117C>T (p.(Arg373Trp))" "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 RNF13 ## Count = 11 "{{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}}" "0000447044" "00025813" "90" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Leu311Ser)" "" "0000447045" "00025813" "90" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0000447046" "00025813" "90" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0000518299" "00025813" "30" "16" "0" "16" "0" "c.16G>C" "r.(?)" "p.(Gly6Arg)" "" "0000518300" "00025813" "30" "700" "7" "700" "7" "c.700+7A>G" "r.(=)" "p.(=)" "" "0000801051" "00025813" "30" "322" "-4" "322" "-4" "c.322-4G>T" "r.spl?" "p.?" "" "0000911846" "00025813" "30" "283" "0" "283" "0" "c.283G>C" "r.(?)" "p.(Val95Leu)" "" "0000975630" "00025813" "30" "114" "8" "114" "8" "c.114+8C>G" "r.(=)" "p.(=)" "" "0000993364" "00025813" "30" "1089" "0" "1091" "0" "c.1089_1091del" "r.(?)" "p.(Val365del)" "" "0000993365" "00025813" "50" "1089" "0" "1091" "0" "c.1089_1091del" "r.(?)" "p.(Val365del)" "" "0001033754" "00025813" "30" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000214691" "0000447044" "0000214692" "0000447045" "0000214693" "0000447046"