### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GTPBP1) # 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}}" "GTPBP1" "GTP binding protein 1" "22" "q13.1" "unknown" "NC_000022.10" "UD_132462971050" "" "https://www.LOVD.nl/GTPBP1" "" "1" "4669" "9567" "602245" "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/GTPBP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-15 17:28:54" "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}}" "00009048" "GTPBP1" "GTP binding protein 1" "001" "NM_004286.4" "" "NP_004277.2" "" "" "" "-154" "4893" "2010" "39101807" "39129592" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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}}" "GTPBP1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00443459" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam1Pat1" "00443460" "" "" "" "2" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat2" "00443461" "" "" "" "1" "" "04601" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam3Pat4" "00448112" "" "" "00443460" "1" "" "00006" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00443459" "00198" "00443460" "00198" "00443461" "00198" "00448112" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 4 "{{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}}" "0000337304" "05611" "00448112" "00006" "Familial, autosomal recessive" "" "MRI brain cerebellar atrophy, hypoplasia/agenesis corpus callosum; , coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, full cheeks, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin;" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337322" "00198" "00443459" "00006" "Familial, autosomal recessive" "4y6m" "delayed motor milestones; profpound neurodevelopmental impairment; tetraparesis; epilepsy; axial hypotonia; increased deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; normal plantar reflexes; no autistic behaviour; microcephaly, coarse face, high forehead, high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes, yellowish skin, no keratosis pilaris; normal vision; strabismus; scoliosis or kyphoscoliosis; pectus carinatum; limited extension elbow/knees; no tapered fingers; no pes planus; pes cavus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337323" "00198" "00443460" "00006" "Familial, autosomal recessive" "4y" "delayed motor milestones; profpound neurodevelopmental impairment; ?; epilepsy; axial hypotonia; increased deep tendon reflexes; autistic behaviour; MRI brain cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, bitemporal narrowing, full cheeks, thick protruding lips, macroglossia, thin sparse brittle hair, sparse eyebrows, sparse eyelashes; abnormal vision; tapered fingers; pes cavus;" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337324" "00198" "00443461" "00006" "Familial, autosomal recessive" "3y7m" "delayed motor milestones; severe neurodevelopmental impairment; tetraparesis; no epilepsy; axial hypotonia; increased deep tendon reflexes; myoclonus; tremor hands/jaws; abnormal hand movements; abnormal plantar reflexes; autistic behaviour; MRI brain hypomyelination, cortical gyral semplification, cerebellar atrophy, hypoplasia/agenesis corpus callosum; microcephaly, no coarse face, no high forehead, no high temporal/frontal hairline, bitemporal narrowing, palpebral ptosis, full cheeks, no thick protruding lips, no macroglossia, thin sparse brittle hair, sparse eyebrows, no sparse eyelashes, yellowish skin, no keratosis pilaris; normal vision; strabismus; scoliosis or kyphoscoliosis; pectus carinatum; normal extension elbow/knees; tapered fingers; pes planus; dysphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000444950" "00443459" "1" "04601" "04601" "2023-11-27 12:49:15" "" "" "SEQ-NG" "DNA" "" "" "0000444951" "00443460" "1" "04601" "04601" "2023-11-27 12:53:39" "" "" "SEQ-NG" "DNA" "" "" "0000444952" "00443461" "1" "04601" "04601" "2023-11-27 12:56:47" "" "" "SEQ-NG" "DNA" "" "" "0000449685" "00448112" "1" "00006" "00006" "2024-02-15 19:21:32" "" "" "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}}" "0000693197" "0" "50" "22" "39123224" "39123224" "subst" "0" "01943" "GTPBP1_000001" "g.39123224C>T" "" "" "" "GTPBP1(NM_004286.5):c.1408C>T (p.R470C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946888" "3" "90" "22" "39123343" "39123343" "subst" "0" "04601" "GTPBP1_000004" "g.39123343C>G" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.38727338C>G" "" "pathogenic (recessive)" "" "0000946889" "3" "90" "22" "39124113" "39124113" "subst" "0" "04601" "GTPBP1_000003" "g.39124113C>T" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "g.38728108del" "" "Germline" "" "" "0" "" "" "g.38728108C>T" "" "pathogenic (recessive)" "" "0000946890" "3" "90" "22" "39112793" "39112793" "subst" "0" "04601" "GTPBP1_000002" "g.39112793A>G" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "rs1007812513" "0" "" "" "g.38716788A>G" "" "pathogenic (recessive)" "" "0000960122" "3" "70" "22" "39124113" "39124113" "subst" "0" "00006" "GTPBP1_000003" "g.39124113C>T" "" "{PMID:Salpietro 2024:38118446}, {DOI:Salpietro 2024:10.1016/j.ajhg.2023.11.012}" "" "" "" "Germline" "" "" "0" "" "" "g.38728108C>T" "" "likely pathogenic (recessive)" "" "0001043864" "0" "50" "22" "39122283" "39122283" "subst" "2.03176E-5" "01804" "GTPBP1_000005" "g.39122283G>A" "" "" "" "GTPBP1(NM_004286.5):c.1239G>A (p.(Ser413=))" "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 GTPBP1 ## 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}}" "0000693197" "00009048" "50" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Arg470Cys)" "" "0000946888" "00009048" "90" "1527" "0" "1527" "0" "c.1527C>G" "r.(?)" "p.(Tyr509*)" "9" "0000946889" "00009048" "90" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.(Gln555*)" "8" "0000946890" "00009048" "90" "622" "0" "622" "0" "c.622A>G" "r.(?)" "p.(Thr208Ala)" "4" "0000960122" "00009048" "70" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.(Gln555Ter)" "8" "0001043864" "00009048" "50" "1239" "0" "1239" "0" "c.1239G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000444950" "0000946888" "0000444951" "0000946889" "0000444952" "0000946890" "0000449685" "0000960122"