### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GPRC5B) # 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}}" "GPRC5B" "G protein-coupled receptor, family C, group 5, member B" "16" "p12" "unknown" "NC_000016.9" "UD_132439357197" "" "https://www.LOVD.nl/GPRC5B" "" "1" "13308" "51704" "605948" "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/GPRC5B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-09 18:49:41" "00006" "2023-11-09 19:08:49" ## 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}}" "00008881" "GPRC5B" "G protein-coupled receptor, family C, group 5, member B" "001" "NM_016235.1" "" "NP_057319.1" "" "" "" "-104" "2741" "1212" "19896151" "19870293" "" "0000-00-00 00:00:00" "" "" ## 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}}" "02477" "MLC" "leukoencephalopathy, megalencephalic, with subcortical cysts (MLC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-18 10:04:14" "07042" "MLC3" "leukoencephalopathy, megalencephalic, with subcortical cysts, type 3" "AD" "620447" "" "" "" "00006" "2023-11-09 18:48:42" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GPRC5B" "07042" ## 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}}" "00441736" "" "" "" "1" "" "04518" "{PMID:Passchier 2023:37143309}" "" "M" "no" "" "" "0" "" "" "" "Fam1Pat1-EL104" "00441737" "" "" "" "1" "" "04518" "{PMID:Passchier 2023:37143309}" "" "M" "no" "" "" "0" "" "" "" "Fam2Pat2-EL919" "00441738" "" "" "" "1" "" "04518" "{PMID:Passchier 2023:37143309}" "" "F" "no" "" "" "0" "" "" "" "Fam3Pat3-EL138" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00441736" "02477" "00441737" "02477" "00441738" "02477" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02477, 07042 ## Count = 3 "{{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}}" "0000331161" "02477" "00441736" "04518" "Isolated (sporadic)" "19y" "normal initial cognitive development; normal initial motor development; 9m-increased OFC; never walked; 4y-start motor decline; 6y-full wheelchair dependency; 4y-start cognitive decline; rage; no history psychiatric diagnoses; 4y-refractory generalized seizures; no status epilepticus; OFC >+2SD; clumsiness; spasticity of arms; spasticity of legs; no gait/truncal ataxia; no appendicular ataxia; no dystonia; no rigidity; dysarthria; no dysphagia; severe cognitive deficit" "" "" "" "" "" "" "" "MLC3" "brain oedema" "0000331162" "02477" "00441737" "04518" "Isolated (sporadic)" "27y" "mildly delayed initial cognitive development; mildly delayed initial motor development; 7m-increased OFC; 3y-walk; 4y-start motor decline; 5y-loss unsupported walking; 6y-full wheelchair dependency; 15y-start cognitive decline; no behavioural problems; no history psychiatric diagnoses; 14y-occasional generalized seizures; OFC 62 cm (>+2SD); clumsiness; spasticity of arms; spasticity of legs; gait/truncal ataxia; appendicular ataxia; dystonia; dysarthria; dysphagia; mild cognitive deficit; no autistic features" "" "" "" "" "" "" "" "MLC3" "brain oedema" "0000331163" "02477" "00441738" "04518" "Isolated (sporadic)" "24y" "normal initial cognitive development; normal initial motor development; 6m-increased OFC; 13m-walk; 8y-start motor decline; 8y-loss unsupported walking; 12y-full wheelchair dependency; 14y-start cognitive decline; no behavioural problems; 14y-depression; two single seizures after fall (adulthood); no status epilepticus; OFC 61.5 cm (>+2SD); clumsiness; spasticity of arms; spasticity of legs; gait/truncal ataxia; appendicular ataxia; no dystonia; rigidity; dysarthria; no dysphagia; mild cognitive deficit; no autistic features" "" "" "" "" "" "" "" "MLC3" "brain oedema" ## 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}}" "0000443222" "00441736" "1" "04518" "00006" "2023-11-09 19:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443223" "00441737" "1" "04518" "00006" "2023-11-09 19:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443224" "00441738" "1" "04518" "00006" "2023-11-09 19:08:47" "" "" "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 = 3 "{{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}}" "0000944614" "0" "70" "16" "19883645" "19883647" "dup" "0" "04518" "GPRC5B_000001" "g.19883645_19883647dup" "" "{PMID:Passchier 2023:37143309}" "" "" "" "De novo" "" "" "0" "" "" "g.19872323_19872325dup" "" "pathogenic (dominant)" "ACMG" "0000944615" "0" "70" "16" "19883645" "19883647" "dup" "0" "04518" "GPRC5B_000001" "g.19883645_19883647dup" "" "{PMID:Passchier 2023:37143309}" "" "" "" "De novo" "" "" "0" "" "" "g.19872323_19872325dup" "" "pathogenic (dominant)" "" "0000944616" "0" "70" "16" "19883638" "19883640" "dup" "0" "04518" "GPRC5B_000002" "g.19883638_19883640dup" "" "{PMID:Passchier 2023:37143309}" "" "" "" "De novo" "" "" "0" "" "" "g.19872316_19872318dup" "" "pathogenic (dominant)" "" ## 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 GPRC5B ## Count = 3 "{{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}}" "0000944614" "00008881" "70" "526" "0" "528" "0" "c.526_528dup" "r.(?)" "p.(Ile176dup)" "2" "0000944615" "00008881" "70" "526" "0" "528" "0" "c.526_528dup" "r.(?)" "p.(Ile176dup)" "2" "0000944616" "00008881" "70" "528" "0" "530" "0" "c.528_530dup" "r.(?)" "p.(Ala177dup)" "2" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000443222" "0000944614" "0000443223" "0000944615" "0000443224" "0000944616"