### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GCH1) # 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}}" "GCH1" "GTP cyclohydrolase 1" "14" "q22.1-q22.2" "unknown" "NG_008647.2" "UD_132118570991" "" "http://www.LOVD.nl/GCH1" "" "1" "4193" "2643" "600225" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-07 09:01:52" "00006" "2026-04-13 18:23:33" ## 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}}" "00008407" "GCH1" "transcript variant 1" "004" "NM_000161.2" "" "NP_000152.1" "" "" "" "-161" "2765" "753" "55369542" "55308723" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01296" "DYT5" "dystonia, type 5, dopa-responsive type (DYT-5)" "AD;AR" "128230" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01833" "HPABH4B" "hyperphenylalaninemia, BH4-deficient, type B" "AR" "233910" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-11-07 08:59:38" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05683" "HPA" "hyperphenylalaninemia (HPA)" "AD" "" "" "" "" "00006" "2020-01-06 17:35:01" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GCH1" "00139" "GCH1" "01296" "GCH1" "01833" "GCH1" "05683" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00275587" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00295981" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296565" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00324383" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "173171" "00374607" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1429" "00408885" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "1" "00421513" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "A1-O" "00421515" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "B1-O" "00421517" "" "" "" "1" "" "00006" "{PMID:Trujillano 2014:23942198}" "" "" "" "Spain" "" "0" "" "" "" "C1-O" "00431885" "" "" "" "1" "" "01602" "" "" "F" "" "Switzerland" "00y03m" "" "" "" "Europe" "SIDS176" "00434054" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00476128" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "F" "" "(Australia);(New Zealand)" "" "0" "" "" "" "MS1176" "00476129" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "F" "" "(Australia);(New Zealand)" "" "0" "" "" "" "LC1177" "00476130" "" "" "" "1" "" "00006" "{PMID:Beecroft 2020:32153140}" "analysis 2249 neurology patients" "F" "" "(Australia);(New Zealand)" "" "0" "" "" "" "CW1178" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00275587" "00198" "00295981" "00198" "00296565" "00198" "00324383" "01296" "00374607" "00198" "00408885" "04214" "00421513" "05683" "00421515" "05683" "00421517" "05683" "00431885" "02087" "00434054" "01296" "00476128" "00108" "00476129" "00108" "00476130" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00139, 00198, 01296, 01833, 02087, 04214, 05683 ## Count = 14 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000210207" "00198" "00275587" "01807" "Unknown" "" "Dystonia (HP:0001332); Tremor (HP:0001337)" "" "" "" "" "" "" "" "" "" "" "0000223448" "00198" "00295981" "01164" "Unknown" "" "Focal dystonia (HP:0004373)" "" "" "" "" "" "" "" "" "" "" "0000223971" "00198" "00296565" "01164" "Unknown" "" "Dystonia (HP:0001332)" "" "" "" "" "" "" "" "" "" "" "0000242925" "01296" "00324383" "01164" "Unknown" "56y" "HPO´s: (+) Ataxia,(+) Dystonia,(+) Frequent falls,(+) Functional motor deficit,(+) Abnormality of coordination,(+) Abnormality of movement / clinically like segawa dystonia with varying response to L-dopa, predominantly ataxia and falls, clinically significant permanent loss of dopa response and significant ataxia, these and falls are prominent, no PNP, no clear cerebellar signs" "" "" "" "" "" "" "" "" "" "" "0000269817" "00198" "00374607" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000301003" "04214" "00408885" "00000" "Unknown" "1y7m" "Extreme Microphthalmia" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000312749" "05683" "00421513" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPABH4B" "tetrahydrobiopterin deficient hyperphenylalaninemia" "" "0000312751" "05683" "00421515" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "HPABH4B" "tetrahydrobiopterin deficient hyperphenylalaninemia" "" "0000312753" "05683" "00421517" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "HPABH4B" "tetrahydrobiopterin deficient hyperphenylalaninemia" "" "0000322454" "02087" "00431885" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "0000324433" "01296" "00434054" "03544" "Isolated (sporadic)" "" "developmental delay, progressive hypotonia" "" "" "" "" "" "" "" "" "" "" "0000360802" "00108" "00476128" "00006" "Familial, autosomal dominant" "8y" "details not specified; ncorrelation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "dystonia" "" "0000360803" "00108" "00476129" "00006" "Familial, autosomal dominant" "9y" "details not specified; ncorrelation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "dystonia" "" "0000360804" "00108" "00476130" "00006" "Familial, autosomal dominant" "11y" "details not specified; ncorrelation clinical diagnosis with genetic diagnosis" "" "" "" "" "" "" "" "" "dystonia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000276745" "00275587" "1" "01807" "01807" "2020-01-09 21:03:50" "" "" "SEQ" "DNA" "" "" "0000297152" "00295981" "1" "01164" "01164" "2020-04-01 11:00:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000297675" "00296565" "1" "01164" "01164" "2020-04-08 14:13:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000325573" "00324383" "1" "01164" "01164" "2020-12-08 13:40:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000375801" "00374607" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000410150" "00408885" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000422824" "00421513" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422826" "00421515" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422828" "00421517" "1" "00006" "00006" "2022-11-07 08:57:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000433325" "00431885" "1" "01602" "01602" "2023-02-17 15:35:23" "" "" "SEQ-NG" "DNA" "" "" "0000435517" "00434054" "1" "03544" "03544" "2023-03-18 13:27:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000477772" "00476128" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "464-gene panel" "0000477773" "00476129" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "464-gene panel" "0000477774" "00476130" "1" "00006" "00006" "2026-04-13 18:16:22" "" "" "SEQ;SEQ-NG" "DNA" "" "464-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000325573" "GCH1" "0000375801" "GCH1" "0000410150" "OTX2" ## 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 = 61 "{{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}}" "0000277029" "0" "10" "14" "55310492" "55310492" "subst" "0.218122" "02330" "GCH1_000001" "g.55310492G>A" "" "" "" "GCH1(NM_000161.3):c.*243C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54843774G>A" "" "benign" "" "0000277030" "0" "10" "14" "55326384" "55326384" "subst" "0.00183327" "02330" "GCH1_000004" "g.55326384C>T" "" "" "" "GCH1(NM_000161.3):c.509+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54859666C>T" "" "benign" "" "0000281012" "0" "30" "14" "55310715" "55310715" "subst" "0.000439036" "02325" "GCH1_000002" "g.55310715G>A" "" "" "" "GCH1(NM_000161.3):c.*20C>T, GCH1(NM_001024024.2):c.*16+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54843997G>A" "" "likely benign" "" "0000281013" "0" "30" "14" "55369314" "55369314" "subst" "0.00419931" "02325" "GCH1_000007" "g.55369314G>A" "" "" "" "GCH1(NM_000161.2):c.68C>T (p.(Pro23Leu)), GCH1(NM_000161.3):c.68C>T (p.P23L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54902596G>A" "" "likely benign" "" "0000288260" "0" "50" "14" "55312502" "55312502" "subst" "0.000211367" "01943" "GCH1_000003" "g.55312502C>T" "" "" "" "GCH1(NM_000161.2):c.610G>A (p.V204I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54845784C>T" "" "VUS" "" "0000323690" "0" "50" "14" "55369054" "55369054" "subst" "9.8956E-5" "01804" "GCH1_000005" "g.55369054G>C" "" "" "" "GCH1(NM_000161.2):c.328C>G (p.(Gln110Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54902336G>C" "" "VUS" "" "0000323691" "0" "50" "14" "55369243" "55369243" "subst" "0" "01804" "GCH1_000006" "g.55369243C>T" "" "" "" "GCH1(NM_000161.2):c.139G>A (p.(Ala47Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54902525C>T" "" "VUS" "" "0000338384" "0" "90" "14" "55326456" "55326456" "subst" "0" "02327" "GCH1_000010" "g.55326456T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54859738T>C" "" "pathogenic" "" "0000346618" "0" "50" "14" "55312547" "55312547" "subst" "0" "02327" "GCH1_000009" "g.55312547T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54845829T>A" "" "VUS" "" "0000552674" "0" "70" "14" "55310812" "55310813" "del" "0" "02327" "GCH1_000013" "g.55310812_55310813del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54844094_54844095del" "" "likely pathogenic" "" "0000552675" "0" "50" "14" "55310817" "55310817" "subst" "0.000381629" "01943" "GCH1_000014" "g.55310817T>C" "" "" "" "GCH1(NM_000161.2):c.671A>G (p.K224R), GCH1(NM_000161.3):c.671A>G (p.(Lys224Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54844099T>C" "" "VUS" "" "0000552676" "0" "90" "14" "55310842" "55310842" "subst" "4.10576E-6" "01943" "GCH1_000015" "g.55310842G>A" "" "" "" "GCH1(NM_000161.2):c.646C>T (p.R216*), GCH1(NM_000161.3):c.646C>T (p.(Arg216*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54844124G>A" "" "pathogenic" "" "0000552677" "0" "90" "14" "55310856" "55310857" "del" "0" "02325" "GCH1_000008" "g.55310856_55310857del" "" "" "" "GCH1(NM_000161.3):c.631_632delAT (p.M211Vfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54844138_54844139del" "" "pathogenic" "" "0000552678" "0" "30" "14" "55312569" "55312569" "subst" "4.87789E-5" "01804" "GCH1_000016" "g.55312569A>C" "" "" "" "GCH1(NM_000161.2):c.543T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54845851A>C" "" "likely benign" "" "0000552679" "0" "50" "14" "55326450" "55326450" "subst" "0" "02327" "GCH1_000017" "g.55326450T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54859732T>C" "" "VUS" "" "0000552680" "0" "90" "14" "55326455" "55326455" "subst" "0" "02327" "GCH1_000018" "g.55326455C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54859737C>T" "" "pathogenic" "" "0000552681" "0" "90" "14" "55369088" "55369088" "del" "0" "02325" "GCH1_000011" "g.55369088del" "" "" "" "GCH1(NM_000161.3):c.295delG (p.A99Pfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902370del" "" "pathogenic" "" "0000552682" "0" "70" "14" "55369132" "55369132" "subst" "0" "02329" "GCH1_000019" "g.55369132C>T" "" "" "" "GCH1(NM_000161.3):c.250G>A (p.E84K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902414C>T" "" "likely pathogenic" "" "0000552683" "0" "30" "14" "55369157" "55369157" "subst" "0" "01943" "GCH1_000020" "g.55369157G>A" "" "" "" "GCH1(NM_000161.2):c.225C>T (p.Y75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902439G>A" "" "likely benign" "" "0000552685" "0" "30" "14" "55369176" "55369176" "subst" "0.000440119" "01943" "GCH1_000022" "g.55369176G>A" "" "" "" "GCH1(NM_000161.2):c.206C>T (p.P69L, p.(Pro69Leu)), GCH1(NM_000161.3):c.206C>T (p.P69L), GCH1(NM_001024024.1):c.206C>T (p.P69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902458G>A" "" "likely benign" "" "0000552686" "0" "50" "14" "55369176" "55369176" "subst" "0.000440119" "02325" "GCH1_000022" "g.55369176G>A" "" "" "" "GCH1(NM_000161.2):c.206C>T (p.P69L, p.(Pro69Leu)), GCH1(NM_000161.3):c.206C>T (p.P69L), GCH1(NM_001024024.1):c.206C>T (p.P69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902458G>A" "" "VUS" "" "0000552687" "0" "50" "14" "55369176" "55369176" "subst" "0.000440119" "02326" "GCH1_000022" "g.55369176G>A" "" "" "" "GCH1(NM_000161.2):c.206C>T (p.P69L, p.(Pro69Leu)), GCH1(NM_000161.3):c.206C>T (p.P69L), GCH1(NM_001024024.1):c.206C>T (p.P69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902458G>A" "" "VUS" "" "0000552688" "0" "30" "14" "55369314" "55369314" "subst" "0.00419931" "02330" "GCH1_000007" "g.55369314G>A" "" "" "" "GCH1(NM_000161.2):c.68C>T (p.(Pro23Leu)), GCH1(NM_000161.3):c.68C>T (p.P23L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902596G>A" "" "likely benign" "" "0000552689" "0" "30" "14" "55369314" "55369314" "subst" "0.00419931" "01804" "GCH1_000007" "g.55369314G>A" "" "" "" "GCH1(NM_000161.2):c.68C>T (p.(Pro23Leu)), GCH1(NM_000161.3):c.68C>T (p.P23L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902596G>A" "" "likely benign" "" "0000614978" "0" "30" "14" "55369316" "55369316" "subst" "0" "02330" "GCH1_000023" "g.55369316G>A" "" "" "" "GCH1(NM_000161.3):c.66C>T (p.F22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54902598G>A" "" "likely benign" "" "0000630878" "0" "90" "14" "55310856" "55310857" "del" "0" "01807" "GCH1_000008" "g.55310856_55310857del" "" "" "" "631_632delAT" "" "Unknown" "" "" "0" "" "" "g.54844138_54844139del" "" "pathogenic" "" "0000659777" "0" "50" "14" "55312525" "55312525" "subst" "0" "01164" "GCH1_000024" "g.55312525G>T" "" "" "" "" "ACMG grading: PM2,PP3,PP5; Zirn et al. 2008. J Neurol Neurosurg Psychiatry 79: 183" "Germline" "" "" "0" "" "" "g.54845807G>T" "" "VUS" "ACMG" "0000660284" "0" "50" "14" "55312484" "55312484" "dup" "0" "01164" "GCH1_000025" "g.55312484dup" "" "" "" "" "ACMG grading: PM2,PP3,PP5; Steinberger et al. 2000. Neurology 55: 1735" "Germline" "" "" "0" "" "" "g.54845766dup" "" "VUS" "ACMG" "0000679990" "0" "50" "14" "55369170" "55369170" "subst" "0" "02327" "GCH1_000026" "g.55369170A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679991" "0" "30" "14" "55369171" "55369171" "subst" "0.000554638" "01943" "GCH1_000027" "g.55369171G>A" "" "" "" "GCH1(NM_000161.2):c.211C>T (p.L71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708589" "0" "70" "14" "55312484" "55312484" "dup" "0" "01164" "GCH1_000025" "g.55312484dup" "" "PMID: 19332422" "" "" "ACMG: PP1, PP3, PM2, PS4_MOD; class 4; second patient unrelated patient in-house with this variant, 2 more in literature, 1 confirmed co-segregation," "Germline" "?" "" "0" "" "" "g.54845766dup" "" "likely pathogenic (dominant)" "ACMG" "0000724796" "0" "90" "14" "55312519" "55312526" "del" "0" "02325" "GCH1_000028" "g.55312519_55312526del" "" "" "" "GCH1(NM_000161.3):c.590_597delTGCGGCCT (p.L197Cfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787152" "0" "50" "14" "55326450" "55326450" "subst" "0" "00006" "GCH1_000029" "g.55326450T>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.54859732T>A" "" "VUS" "" "0000806426" "0" "90" "14" "55332074" "55332074" "subst" "0" "02325" "GCH1_000030" "g.55332074C>A" "" "" "" "GCH1(NM_000161.3):c.424G>T (p.E142*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806427" "0" "90" "14" "55332076" "55332076" "subst" "0" "02325" "GCH1_000031" "g.55332076C>G" "" "" "" "GCH1(NM_000161.3):c.422G>C (p.C141S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000847412" "0" "70" "14" "53758044" "56834649" "del" "0" "00000" "ATG14_000012" "g.53758044_56834649del" "" "" "" "Whole gene deletion" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000891812" "0" "90" "14" "55369267" "55369267" "dup" "0" "01804" "GCH1_000033" "g.55369267dup" "" "" "" "GCH1(NM_000161.2):c.119dup (p.(Arg41AlafsTer24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000898064" "1" "90" "14" "55310817" "55310817" "subst" "0.000381629" "00006" "GCH1_000014" "g.55310817T>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs41298442" "0" "" "" "g.54844099T>C" "" "pathogenic (recessive)" "" "0000898066" "1" "90" "14" "55369095" "55369095" "subst" "0" "00006" "GCH1_000035" "g.55369095C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.54902377C>T" "" "pathogenic (dominant)" "" "0000898068" "1" "90" "14" "55310867" "55310867" "subst" "0" "00006" "GCH1_000034" "g.55310867A>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.54844149A>C" "" "pathogenic (dominant)" "" "0000898074" "2" "90" "14" "55369117" "55369117" "subst" "0" "00006" "GCH1_000036" "g.55369117G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "g.54902399G>A" "" "pathogenic (recessive)" "" "0000914199" "0" "50" "14" "55369176" "55369176" "subst" "0.000440119" "02327" "GCH1_000022" "g.55369176G>A" "" "" "" "GCH1(NM_000161.2):c.206C>T (p.P69L, p.(Pro69Leu)), GCH1(NM_000161.3):c.206C>T (p.P69L), GCH1(NM_001024024.1):c.206C>T (p.P69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918972" "0" "70" "14" "55369083" "55369083" "subst" "0" "01602" "GCH1_000038" "g.55369083G>A" "" "" "" "" "" "Unknown" "" "rs527416949" "" "" "" "" "" "likely pathogenic" "ACMG" "0000921530" "21" "70" "14" "55310764" "55310764" "subst" "0" "03544" "GCH1_000037" "g.55310764C>A" "" "" "" "" "variant inherited from unaffected mother, incomplete penetrance; DOPA-responsive dystonia (the health state of proband significantly improved after L-DOPA therapy)" "Germline" "" "" "0" "" "" "g.54844046C>A" "1432028" "likely pathogenic (!)" "ACMG" "0000925887" "0" "50" "14" "55369108" "55369108" "subst" "8.19008E-6" "02325" "GCH1_000039" "g.55369108G>T" "" "" "" "GCH1(NM_000161.3):c.274C>A (p.L92I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925888" "0" "30" "14" "55369314" "55369314" "subst" "0.00419931" "02327" "GCH1_000007" "g.55369314G>A" "" "" "" "GCH1(NM_000161.2):c.68C>T (p.(Pro23Leu)), GCH1(NM_000161.3):c.68C>T (p.P23L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930311" "0" "90" "14" "55310842" "55310842" "subst" "4.10576E-6" "02327" "GCH1_000015" "g.55310842G>A" "" "" "" "GCH1(NM_000161.2):c.646C>T (p.R216*), GCH1(NM_000161.3):c.646C>T (p.(Arg216*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930312" "0" "50" "14" "55312483" "55312483" "subst" "0" "02325" "GCH1_000040" "g.55312483T>C" "" "" "" "GCH1(NM_000161.3):c.626+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980932" "0" "70" "14" "55310817" "55310817" "subst" "0.000381629" "01804" "GCH1_000014" "g.55310817T>C" "" "" "" "GCH1(NM_000161.2):c.671A>G (p.K224R), GCH1(NM_000161.3):c.671A>G (p.(Lys224Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980933" "0" "50" "14" "55369293" "55369293" "subst" "0" "01804" "GCH1_000041" "g.55369293G>C" "" "" "" "GCH1(NM_000161.3):c.89C>G (p.(Pro30Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001037" "0" "50" "14" "55312519" "55312519" "subst" "1.62608E-5" "01804" "GCH1_000042" "g.55312519C>T" "" "" "" "GCH1(NM_000161.2):c.593G>A (p.(Arg198Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001038" "0" "50" "14" "55369176" "55369176" "subst" "0.000440119" "01804" "GCH1_000022" "g.55369176G>A" "" "" "" "GCH1(NM_000161.2):c.206C>T (p.P69L, p.(Pro69Leu)), GCH1(NM_000161.3):c.206C>T (p.P69L), GCH1(NM_001024024.1):c.206C>T (p.P69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001039" "0" "50" "14" "55369266" "55369266" "subst" "0" "01804" "GCH1_000043" "g.55369266G>C" "" "" "" "GCH1(NM_000161.2):c.116C>G (p.(Pro39Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007087" "0" "50" "14" "55312502" "55312502" "subst" "0.000211367" "03779" "GCH1_000003" "g.55312502C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs200891969" "0" "" "" "" "" "VUS" "" "0001040005" "0" "90" "14" "55310842" "55310842" "subst" "4.10576E-6" "01804" "GCH1_000015" "g.55310842G>A" "" "" "" "GCH1(NM_000161.2):c.646C>T (p.R216*), GCH1(NM_000161.3):c.646C>T (p.(Arg216*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001054842" "0" "50" "14" "55310123" "55310123" "subst" "0" "01804" "GCH1_000044" "g.55310123G>A" "" "" "" "GCH1(NM_000161.3):c.*612C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054843" "0" "50" "14" "55310715" "55310715" "subst" "0.000439036" "01804" "GCH1_000002" "g.55310715G>A" "" "" "" "GCH1(NM_000161.3):c.*20C>T, GCH1(NM_001024024.2):c.*16+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054844" "0" "30" "14" "55326392" "55326392" "subst" "0" "01804" "GCH1_000045" "g.55326392C>A" "" "" "" "GCH1(NM_000161.3):c.509+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001073159" "0" "90" "14" "55369096" "55369097" "del" "0" "00006" "GCH1_000047" "g.55369096_55369097del" "" "{PMID:Beecroft 2020:32153140}" "" "285_286delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54902378_54902379del" "" "pathogenic (dominant)" "" "0001073160" "0" "90" "14" "55310842" "55310842" "subst" "4.10576E-6" "00006" "GCH1_000015" "g.55310842G>A" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54844124G>A" "" "pathogenic (dominant)" "" "0001073161" "0" "90" "14" "55310818" "55310818" "subst" "0" "00006" "GCH1_000046" "g.55310818T>A" "" "{PMID:Beecroft 2020:32153140}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54844100T>A" "" "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 GCH1 ## Count = 61 "{{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}}" "0000277029" "00008407" "10" "996" "0" "996" "0" "c.*243C>T" "r.(=)" "p.(=)" "" "0000277030" "00008407" "10" "509" "15" "509" "15" "c.509+15G>A" "r.(=)" "p.(=)" "" "0000281012" "00008407" "30" "773" "0" "773" "0" "c.*20C>T" "r.(=)" "p.(=)" "" "0000281013" "00008407" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Pro23Leu)" "" "0000288260" "00008407" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Val204Ile)" "" "0000323690" "00008407" "50" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Gln110Glu)" "" "0000323691" "00008407" "50" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Ala47Thr)" "" "0000338384" "00008407" "90" "454" "-2" "454" "-2" "c.454-2A>G" "r.spl?" "p.?" "" "0000346618" "00008407" "50" "565" "0" "565" "0" "c.565A>T" "r.(?)" "p.(Ile189Phe)" "" "0000552674" "00008407" "70" "677" "0" "678" "0" "c.677_678del" "r.(?)" "p.(Val226AspfsTer23)" "" "0000552675" "00008407" "50" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Lys224Arg)" "" "0000552676" "00008407" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Ter)" "" "0000552677" "00008407" "90" "631" "0" "632" "0" "c.631_632del" "r.(?)" "p.(Met211ValfsTer38)" "" "0000552678" "00008407" "30" "543" "0" "543" "0" "c.543T>G" "r.(?)" "p.(Val181=)" "" "0000552679" "00008407" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(His153Arg)" "" "0000552680" "00008407" "90" "454" "-1" "454" "-1" "c.454-1G>A" "r.spl?" "p.?" "" "0000552681" "00008407" "90" "295" "0" "295" "0" "c.295del" "r.(?)" "p.(Ala99ProfsTer19)" "" "0000552682" "00008407" "70" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Glu84Lys)" "" "0000552683" "00008407" "30" "225" "0" "225" "0" "c.225C>T" "r.(?)" "p.(Tyr75=)" "" "0000552685" "00008407" "30" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "0000552686" "00008407" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "0000552687" "00008407" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "0000552688" "00008407" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Pro23Leu)" "" "0000552689" "00008407" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Pro23Leu)" "" "0000614978" "00008407" "30" "66" "0" "66" "0" "c.66C>T" "r.(?)" "p.(Phe22=)" "" "0000630878" "00008407" "90" "631" "0" "632" "0" "c.631_632del" "r.(?)" "p.(Met211fs)" "" "0000659777" "00008407" "50" "587" "0" "587" "0" "c.587C>A" "r.(?)" "p.(Ala196Asp)" "" "0000660284" "00008407" "50" "626" "2" "626" "2" "c.626+2dup" "r.(?)" "p.(?)" "" "0000679990" "00008407" "50" "212" "0" "212" "0" "c.212T>G" "r.(?)" "p.(Leu71Arg)" "" "0000679991" "00008407" "30" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Leu71=)" "" "0000708589" "00008407" "70" "626" "2" "626" "2" "c.626+2dup" "r.spl" "p.?" "5i" "0000724796" "00008407" "90" "590" "0" "597" "0" "c.590_597del" "r.(?)" "p.(Leu197Cysfs*8)" "" "0000787152" "00008407" "50" "458" "0" "458" "0" "c.458A>T" "r.(?)" "p.(His153Leu)" "3" "0000806426" "00008407" "90" "424" "0" "424" "0" "c.424G>T" "r.(?)" "p.(Glu142*)" "" "0000806427" "00008407" "90" "422" "0" "422" "0" "c.422G>C" "r.(?)" "p.(Cys141Ser)" "" "0000847412" "00008407" "70" "-161" "-1465107" "2765" "1550679" "c.-1465268_*1552691del" "r.0?" "p.0?" "" "0000891812" "00008407" "90" "119" "0" "119" "0" "c.119dup" "r.(?)" "p.(Arg41Alafs*24)" "" "0000898064" "00008407" "90" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Lys224Arg)" "" "0000898066" "00008407" "90" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Trp96*)" "" "0000898068" "00008407" "90" "627" "-6" "627" "-6" "c.627-6T>G" "r.spl" "p.?" "" "0000898074" "00008407" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Gln89*)" "" "0000914199" "00008407" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "0000918972" "00008407" "70" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Ser100Leu)" "" "0000921530" "00008407" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Glu242*)" "" "0000925887" "00008407" "50" "274" "0" "274" "0" "c.274C>A" "r.(?)" "p.(Leu92Ile)" "" "0000925888" "00008407" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Pro23Leu)" "" "0000930311" "00008407" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Ter)" "" "0000930312" "00008407" "50" "626" "3" "626" "3" "c.626+3A>G" "r.spl?" "p.?" "" "0000980932" "00008407" "70" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Lys224Arg)" "" "0000980933" "00008407" "50" "89" "0" "89" "0" "c.89C>G" "r.(?)" "p.(Pro30Arg)" "" "0001001037" "00008407" "50" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "" "0001001038" "00008407" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "0001001039" "00008407" "50" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Pro39Arg)" "" "0001007087" "00008407" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Val204Ile)" "" "0001040005" "00008407" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Ter)" "" "0001054842" "00008407" "50" "1365" "0" "1365" "0" "c.*612C>T" "r.(=)" "p.(=)" "" "0001054843" "00008407" "50" "773" "0" "773" "0" "c.*20C>T" "r.(=)" "p.(=)" "" "0001054844" "00008407" "30" "509" "7" "509" "7" "c.509+7G>T" "r.(=)" "p.(=)" "" "0001073159" "00008407" "90" "285" "0" "286" "0" "c.285_286del" "r.(?)" "p.(Trp96GlufsTer27)" "1" "0001073160" "00008407" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Ter)" "6" "0001073161" "00008407" "90" "670" "0" "670" "0" "c.670A>T" "r.(?)" "p.(Lys224Ter)" "6" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000276745" "0000630878" "0000297152" "0000659777" "0000297675" "0000660284" "0000325573" "0000708589" "0000375801" "0000787152" "0000410150" "0000847412" "0000422824" "0000898064" "0000422824" "0000898074" "0000422826" "0000898066" "0000422828" "0000898068" "0000433325" "0000918972" "0000435517" "0000921530" "0000477772" "0001073159" "0000477773" "0001073160" "0000477774" "0001073161"