### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAB11A) # 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}}" "RAB11A" "RAB11A, member RAS oncogene family" "15" "q22.31" "unknown" "NC_000015.9" "UD_136021303712" "" "https://www.LOVD.nl/RAB11A" "" "1" "9760" "8766" "605570" "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/RAB11A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-23 15:35:36" "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}}" "00025863" "RAB11A" "transcript variant 1" "003" "NM_004663.4" "" "NP_004654.1" "" "" "" "-127" "4802" "651" "66161797" "66184329" "00006" "2023-10-23 15:34:46" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06484" "GDPAG" "Global developmental delay, progressive ataxia, and elevated glutamine" "AR" "618412" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00438677" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "F" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0637" "00438760" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "" "" "0" "" "" "" "HK055" "00438761" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24631" "00438762" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "84049" "00451443" "" "" "" "1" "" "04699" "" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00438677" "06906" "00438760" "00139" "00438761" "05611" "00438762" "00139" "00451443" "06484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 06484, 06906 ## Count = 4 "{{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}}" "0000328580" "06906" "00438677" "00006" "Isolated (sporadic)" "09y06m" "see paper; ..., severe global developmental delay, severe intellectual disability; 4m-seizures; EEG modified hypsarrhythmia, myoclonic, diffuse slowing with myoclonic spikes; MRI brain atrophy, partial agenesis corpus callosum, delayed myelination, decreased N-acetylaspartate; acquired microcephaly, axial hypotonia" "" "" "" "" "" "" "" "" "infantile spasms" "0000328658" "00139" "00438760" "00006" "Isolated (sporadic)" "05y06m" "see paper; ..., global developmental delay, moderate intellectual disability; no seizures; EEG abnormal background activity, no epileptic charges; MRI brain central brain atrophy, bilateral periventricular white-matter damage, thin corpus callosum; acquired microcephaly, axial hypotonia, obesity, aggressive behavior" "" "" "" "" "" "" "" "" "intellectual disability" "0000328659" "05611" "00438761" "00006" "Isolated (sporadic)" "04y" "see paper; ..., moderate global developmental delay; no seizures; MRI brain partial agenesis corpus callosum; distractible, possible ADHD" "" "" "" "" "" "" "" "" "global developmental delay" "0000328660" "00139" "00438762" "00006" "Isolated (sporadic)" "09y11m" "see paper; ..., moderate intellectual disability; no seizures; possible hyperactivity, obesity" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000440159" "00438677" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440242" "00438760" "1" "00006" "00006" "2023-10-23 15:42:52" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440243" "00438761" "1" "00006" "00006" "2023-10-23 15:47:37" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440244" "00438762" "1" "00006" "00006" "2023-10-23 15:51:03" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000453043" "00451443" "1" "04699" "04699" "2024-06-04 09:11:38" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000453043" "RAB11A" ## 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}}" "0000936453" "0" "70" "15" "66170107" "66170107" "subst" "0" "00006" "RAB11A_000001" "g.66170107C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_004663:c.C244T (R82C)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000936550" "0" "70" "15" "66169700" "66169700" "subst" "0" "00006" "RAB11A_000002" "g.66169700A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.65877362A>G" "" "likely pathogenic (dominant)" "" "0000936551" "0" "70" "15" "66172039" "66172039" "subst" "0" "00006" "RAB11A_000003" "g.66172039C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.65879701C>T" "" "likely pathogenic (dominant)" "" "0000936552" "0" "70" "15" "66172039" "66172039" "subst" "0" "00006" "RAB11A_000003" "g.66172039C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.65879701C>T" "" "likely pathogenic (dominant)" "" "0000987545" "1" "70" "15" "66170233" "66170233" "subst" "0" "04699" "RAB11A_000004" "g.66170233A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.65877895A>G" "" "VUS" "ACMG" "0001040513" "0" "30" "15" "66180094" "66180094" "subst" "0" "01804" "RAB11A_000005" "g.66180094G>A" "" "" "" "RAB11A(NM_004663.5):c.567G>A (p.(Met189Ile))" "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 RAB11A ## 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}}" "0000936453" "00025863" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Cys)" "" "0000936550" "00025863" "70" "71" "0" "71" "0" "c.71A>G" "r.(?)" "p.(Lys24Arg)" "" "0000936551" "00025863" "70" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Ser154Leu)" "" "0000936552" "00025863" "70" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Ser154Leu)" "" "0000987545" "00025863" "70" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Asn124Asp)" "3" "0001040513" "00025863" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Met189Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000440159" "0000936453" "0000440242" "0000936550" "0000440243" "0000936551" "0000440244" "0000936552" "0000453043" "0000987545"