### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM184B) # 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}}" "TMEM184B" "transmembrane protein 184B" "22" "q12" "unknown" "NC_000022.10" "UD_132462960000" "" "https://www.LOVD.nl/TMEM184B" "" "1" "1310" "25829" "0" "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/TMEM184B_codingDNA.html" "1" "" "" "-1" "" "0" "00001" "2013-05-03 00:00:00" "00006" "2025-10-13 13:31:10" "00006" "2025-10-13 13:59:30" ## 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}}" "00021426" "TMEM184B" "transcript variant 1" "001" "NM_012264.4" "" "NP_036396.2" "" "" "" "-209" "3402" "1224" "38669040" "38615298" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TMEM184B" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00467467" "" "" "" "1" "" "00006" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00467468" "" "" "" "1" "" "00006" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00467469" "" "" "" "1" "" "00006" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "2-generation family, affected toddler, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00467470" "" "" "" "1" "" "00006" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00467471" "" "" "" "1" "" "00006" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00467472" "" "" "" "1" "" "00006" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00467467" "05611" "00467468" "05611" "00467469" "05611" "00467470" "05611" "00467471" "05611" "00467472" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 6 "{{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}}" "0000352674" "05611" "00467467" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay; no intellectual disability; microcephaly; no seizures" "14y" "6m" "" "" "" "" "" "neurodevelopmental disorder" "0000352675" "05611" "00467468" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay; intellectual disability; no microcephaly; no thin or hypoplastic corpus callosum; seizures" "9y" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352676" "05611" "00467469" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay; no intellectual disability; no microcephaly; thin or hypoplastic corpus callosum; febrile seizures" "3y" "toddler" "" "" "" "" "" "neurodevelopmental disorder" "0000352677" "05611" "00467470" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay; no intellectual disability; no microcephaly; thin or hypoplastic corpus callosum; seizures" "2y6m" "4m" "" "" "" "" "" "neurodevelopmental disorder" "0000352678" "05611" "00467471" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay; no intellectual disability; no microcephaly; thin or hypoplastic corpus callosum; seizures" "13y" "7y" "" "" "" "" "" "neurodevelopmental disorder" "0000352679" "05611" "00467472" "00006" "Isolated (sporadic)" "" "see paper; ..., no developmental delay; intellectual disability; no microcephaly; thin or hypoplastic corpus callosum; no seizures" "7y" "7y" "" "" "" "" "" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000469130" "00467467" "1" "00006" "00006" "2025-10-13 13:50:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469131" "00467468" "1" "00006" "00006" "2025-10-13 13:50:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469132" "00467469" "1" "00006" "00006" "2025-10-13 13:50:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469133" "00467470" "1" "00006" "00006" "2025-10-13 13:50:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469134" "00467471" "1" "00006" "00006" "2025-10-13 13:50:38" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000469135" "00467472" "1" "00006" "00006" "2025-10-13 13:50:38" "" "" "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 = 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}}" "0001049312" "0" "70" "22" "38642037" "38642037" "subst" "2.03562E-5" "00006" "TMEM184B_000006" "g.38642037C>T" "" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "" "" "" "De novo" "" "" "0" "" "" "g.38246031C>T" "" "likely pathogenic (dominant)" "" "0001049313" "0" "70" "22" "38627319" "38627319" "subst" "0" "00006" "TMEM184B_000005" "g.38627319A>C" "" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "" "" "" "De novo" "" "" "0" "" "" "g.38231313A>C" "" "likely pathogenic (dominant)" "" "0001049314" "0" "70" "22" "38626716" "38626716" "subst" "0" "00006" "TMEM184B_000004" "g.38626716C>T" "" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "" "" "" "De novo" "" "" "0" "" "" "g.38230710C>T" "" "likely pathogenic (dominant)" "" "0001049315" "0" "70" "22" "38622853" "38622853" "subst" "0" "00006" "TMEM184B_000003" "g.38622853T>C" "" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "" "" "" "De novo" "" "" "0" "" "" "g.38226846T>C" "" "likely pathogenic (dominant)" "" "0001049316" "0" "70" "22" "38621430" "38621430" "subst" "0" "00006" "TMEM184B_000001" "g.38621430C>T" "" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "" "" "" "De novo" "" "" "0" "" "" "g.38225423C>T" "" "likely pathogenic (dominant)" "" "0001049317" "0" "70" "22" "38620911" "38620911" "subst" "0" "00006" "TMEM184B_000002" "g.38620911C>G" "" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "" "" "" "De novo" "" "" "0" "" "" "g.38224904C>G" "" "likely 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 TMEM184B ## 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}}" "0001049312" "00021426" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Met)" "" "0001049313" "00021426" "70" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Leu127Arg)" "" "0001049314" "00021426" "70" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "" "0001049315" "00021426" "70" "550" "0" "550" "0" "c.550A>G" "r.(?)" "p.(Lys184Glu)" "" "0001049316" "00021426" "70" "787" "1" "787" "1" "c.787+1G>A" "r.759_787del" "p.Ser254HisfsTer58" "7i" "0001049317" "00021426" "70" "863" "0" "863" "0" "c.863G>C" "r.(?)" "p.(Gly288Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000469130" "0001049312" "0000469131" "0001049313" "0000469132" "0001049314" "0000469133" "0001049315" "0000469134" "0001049316" "0000469135" "0001049317"