### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HNMT) # 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}}" "HNMT" "histamine N-methyltransferase" "2" "q22.1" "unknown" "NC_000002.11" "UD_132084522152" "" "https://www.LOVD.nl/HNMT" "" "1" "5028" "3176" "605238" "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/HNMT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-22 14:17:30" "00006" "2024-02-22 16:44:17" ## 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}}" "00025652" "HNMT" "transcript variant 1" "001" "NM_006895.2" "" "NP_008826.1" "" "" "" "-254" "3113" "879" "138721808" "138773934" "00006" "2021-10-31 12:44:25" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00511" "-" "asthma, susceptibility to" "AD" "600807" "" "" "" "00006" "2014-08-20 13:51:24" "00006" "2021-12-10 21:51:32" "06456" "MRT51" "Mental retardation, autosomal recessive 51" "AR" "616739" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HNMT" "00511" "HNMT" "06456" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00387696" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "Iraq" "" "0" "" "" "Kurd" "G016" "00448165" "" "" "" "4" "" "00006" "{PMID:Heidari 2015:26206890}" "2-generation family, 4 affected (2F, 2M), unaffected heterozygous parents (first cousin)/relatives" "F" "yes" "Iran" "" "0" "" "" "Turkey" "FamAPatIV1" "00448166" "" "" "00448165" "1" "" "00006" "{PMID:Heidari 2015:26206890}" "brother" "M" "yes" "Iran" "" "0" "" "" "Turkey" "FamAPatIV4" "00448167" "" "" "00448165" "1" "" "00006" "{PMID:Heidari 2015:26206890}" "sister" "F" "yes" "Iran" "" "0" "" "" "Turkey" "FamAPatIV6" "00448168" "" "" "00448165" "1" "" "00006" "{PMID:Heidari 2015:26206890}" "brother" "M" "yes" "Iran" "" "0" "" "" "Turkey" "FamAPatIV8" "00448169" "" "" "" "3" "" "00006" "{PMID:Heidari 2015:26206890}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous parents (first cousin)/relatives" "M" "yes" "Germany" "" "0" "" "" "Kurdish" "FamBPatIII1" "00448170" "" "" "00448169" "1" "" "00006" "{PMID:Heidari 2015:26206890}" "sister" "F" "yes" "Germany" "" "0" "" "" "Kurdish" "FamBPatIII3" "00448171" "" "" "00448169" "1" "" "00006" "{PMID:Heidari 2015:26206890}" "brother" "M" "yes" "Germany" "" "0" "" "" "Kurdish" "FamBPatIII4" "00448172" "" "" "" "2" "" "00006" "{PMID:Preuss 1998:9547362}" "" "" "" "" "" "0" "" "" "" "controls" "00448173" "" "" "" "20" "" "00006" "{PMID:Preuss 1998:9547362}" "" "" "" "United States" "" "0" "" "" "" "control" "00448174" "" "" "" "5" "" "00006" "{PMID:Preuss 1998:9547362}" "" "" "" "United States" "" "0" "" "" "" "control" "00448175" "" "" "" "38" "" "00006" "{PMID:Preuss 1998:9547362}" "" "" "" "United States" "" "0" "" "" "" "controls" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00387696" "00139" "00448165" "00139" "00448166" "00139" "00448167" "00139" "00448168" "00139" "00448169" "00139" "00448170" "00139" "00448171" "00139" "00448172" "00000" "00448173" "00000" "00448174" "00000" "00448175" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00511, 06456 ## Count = 8 "{{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}}" "0000281264" "00139" "00387696" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "intellectual disability" "0000337379" "00139" "00448165" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., height 151cm (−2.5 SD), weight 65kg (+1.5 SD), OFC 55cm (Mean); severe intellectual disability (IQ28)" "" "" "" "" "" "" "" "MRT51" "intellectual disability" "0000337380" "00139" "00448166" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., height 172cm (−0.8 SD), weight 71kg (+0.7 SD), OFC 54.5cm (−1.46 SD); moderate intellectual disability (IQ49)" "" "" "" "" "" "" "" "MRT51" "intellectual disability" "0000337381" "00139" "00448167" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., height 153cm (−2.2 SD), weight 63kg (+1.2 SD), OFC 55cm (Mean); severe intellectual disability (IQ25)" "" "" "" "" "" "" "" "MRT51" "intellectual disability" "0000337382" "00139" "00448168" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., height 170cm (−1.2 SD), weight 69kg (+0.6 SD), OFC 54cm (−1.46 SD); mild intellectual disability (IQ54)" "" "" "" "" "" "" "" "MRT51" "intellectual disability" "0000337383" "00139" "00448169" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., height 165cm (−1.8 SD), weight 56kg (+0.2 SD), OFC 54cm (−1.5 SD); severe intellectual disability (IQ20–34)" "" "" "" "" "" "" "" "MRT51" "intellectual disability" "0000337384" "00139" "00448170" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., height 151cm (−2 SD), weight 44kg (+0.2 SD), OFC 52cm (−1.7 SD); severe intellectual disability (IQ20–34)" "" "" "" "" "" "" "" "MRT51" "intellectual disability" "0000337385" "00139" "00448171" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., height 138cm (−2.1 SD), weight 40kg (+0.8 SD), OFC 52cm (−1.7 SD); severe intellectual disability (IQ20-34)" "" "" "" "" "" "" "" "MRT51" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000388927" "00387696" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449740" "00448165" "1" "00006" "00006" "2024-02-22 16:11:47" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000449741" "00448166" "1" "00006" "00006" "2024-02-22 16:11:47" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000449742" "00448167" "1" "00006" "00006" "2024-02-22 16:11:47" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000449743" "00448168" "1" "00006" "00006" "2024-02-22 16:11:47" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000449744" "00448169" "1" "00006" "00006" "2024-02-22 16:11:47" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000449745" "00448170" "1" "00006" "00006" "2024-02-22 16:11:47" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000449746" "00448171" "1" "00006" "00006" "2024-02-22 16:11:47" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000449747" "00448172" "1" "00006" "00006" "2024-02-22 16:22:43" "00006" "2024-02-22 16:43:13" "PCRdig;RT-PCR;SEQ" "DNA;RNA" "" "" "0000449748" "00448173" "1" "00006" "00006" "2024-02-22 16:33:05" "" "" "SEQ" "DNA" "" "" "0000449749" "00448174" "1" "00006" "00006" "2024-02-22 16:38:05" "00006" "2024-02-22 16:44:17" "PCRdig;RT-PCR;SEQ" "DNA;RNA" "" "" "0000449750" "00448175" "1" "00006" "00006" "2024-02-22 16:41:44" "" "" "PCRdig" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000388927" "HNMT" "0000449747" "HNMT" "0000449748" "HNMT" "0000449749" "HNMT" "0000449750" "HNMT" ## 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 = 18 "{{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}}" "0000327254" "0" "50" "2" "138722149" "138722149" "subst" "4.06825E-6" "01804" "HNMT_000001" "g.138722149C>T" "" "" "" "HNMT(NM_006895.2):c.88C>T (p.(Gln30Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137964579C>T" "" "VUS" "" "0000676018" "0" "50" "2" "138722158" "138722158" "subst" "0" "02325" "HNMT_000003" "g.138722158C>T" "" "" "" "HNMT(NM_006895.3):c.97C>T (p.Q33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000799669" "0" "90" "2" "138771444" "138771444" "subst" "8.14001E-6" "01804" "HNMT_000004" "g.138771444T>C" "" "" "" "HNMT(NM_006895.2):c.623T>C (p.(Leu208Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000817720" "3" "70" "2" "138771444" "138771444" "subst" "8.14001E-6" "00006" "HNMT_000004" "g.138771444T>C" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.138013874T>C" "" "likely pathogenic (recessive)" "" "0000883740" "0" "50" "2" "138771588" "138771588" "del" "0" "02325" "HNMT_000005" "g.138771588del" "" "" "" "HNMT(NM_006895.3):c.767delC (p.P256Lfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923290" "0" "90" "2" "138771444" "138771444" "subst" "8.14001E-6" "02327" "HNMT_000004" "g.138771444T>C" "" "" "" "HNMT(NM_006895.2):c.623T>C (p.(Leu208Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000960221" "3" "90" "2" "138727776" "138727776" "subst" "4.20571E-6" "00006" "HNMT_000008" "g.138727776G>A" "" "{PMID:Heidari 2015:26206890}" "" "" "" "Germline" "yes" "rs758252808" "0" "" "" "g.137970206G>A" "" "pathogenic (recessive)" "" "0000960222" "3" "90" "2" "138727776" "138727776" "subst" "4.20571E-6" "00006" "HNMT_000008" "g.138727776G>A" "" "{PMID:Heidari 2015:26206890}" "" "" "" "Germline" "yes" "rs758252808" "0" "" "" "g.137970206G>A" "" "pathogenic (recessive)" "" "0000960223" "3" "90" "2" "138727776" "138727776" "subst" "4.20571E-6" "00006" "HNMT_000008" "g.138727776G>A" "" "{PMID:Heidari 2015:26206890}" "" "" "" "Germline" "yes" "rs758252808" "0" "" "" "g.137970206G>A" "" "pathogenic (recessive)" "" "0000960224" "3" "90" "2" "138727776" "138727776" "subst" "4.20571E-6" "00006" "HNMT_000008" "g.138727776G>A" "" "{PMID:Heidari 2015:26206890}" "" "" "" "Germline" "yes" "rs758252808" "0" "" "" "g.137970206G>A" "" "pathogenic (recessive)" "" "0000960225" "3" "90" "2" "138771444" "138771444" "subst" "8.14001E-6" "00006" "HNMT_000004" "g.138771444T>C" "" "{PMID:Heidari 2015:26206890}" "" "632T>C" "" "Germline" "yes" "rs745756308" "0" "" "" "g.138013874T>C" "" "pathogenic (recessive)" "" "0000960226" "3" "90" "2" "138771453" "138771453" "subst" "0" "00006" "HNMT_000004" "g.138771453T>C" "" "{PMID:Heidari 2015:26206890}" "" "633T>C" "" "Germline" "yes" "rs745756308" "0" "" "" "g.138013874T>C" "" "pathogenic (recessive)" "" "0000960227" "3" "90" "2" "138771453" "138771453" "subst" "0" "00006" "HNMT_000004" "g.138771453T>C" "" "{PMID:Heidari 2015:26206890}" "" "634T>C" "" "Germline" "yes" "rs745756308" "0" "" "" "g.138013874T>C" "" "pathogenic (recessive)" "" "0000960230" "3" "70" "2" "138759649" "138759649" "subst" "0.100756" "00006" "HNMT_000006" "g.138759649C>T" "2/114 individuals" "{PMID:Preuss 1998:9547362}" "EcoRV+" "" "reduced HNMT enzymatic activity" "Germline" "" "rs11558538" "0" "" "" "g.138002079C>T" "" "VUS (!)" "" "0000960231" "1" "70" "2" "138759649" "138759649" "subst" "0.100756" "00006" "HNMT_000006" "g.138759649C>T" "20/114 individuals" "{PMID:Preuss 1998:9547362}" "EcoRV+" "" "reduced HNMT enzymatic activity" "Germline" "" "" "0" "" "" "g.138002079C>T" "" "VUS (!)" "" "0000960232" "3" "30" "2" "138772638" "138772638" "subst" "0" "00006" "HNMT_000007" "g.138772638A>G" "5/114 individuals" "{PMID:Preuss 1998:9547362}" "" "" "" "Germline" "" "" "0" "" "" "g.138015068A>G" "" "benign" "" "0000960233" "1" "30" "2" "138772638" "138772638" "subst" "0" "00006" "HNMT_000007" "g.138772638A>G" "38/114 individuals" "{PMID:Preuss 1998:9547362}" "" "" "" "Germline" "" "" "0" "" "" "g.138015068A>G" "" "benign" "" "0000991629" "0" "50" "2" "138722128" "138722128" "subst" "0" "01804" "HNMT_000009" "g.138722128C>A" "" "" "" "HNMT(NM_006895.2):c.67C>A (p.(Leu23Ile))" "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 HNMT ## Count = 18 "{{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}}" "0000327254" "00025652" "50" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Gln30Ter)" "" "0000676018" "00025652" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Gln33Ter)" "" "0000799669" "00025652" "90" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000817720" "00025652" "70" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000883740" "00025652" "50" "767" "0" "767" "0" "c.767del" "r.(?)" "p.(Pro256LeufsTer30)" "" "0000923290" "00025652" "90" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000960221" "00025652" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Asp)" "" "0000960222" "00025652" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Asp)" "" "0000960223" "00025652" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Asp)" "" "0000960224" "00025652" "90" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Asp)" "" "0000960225" "00025652" "90" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000960226" "00025652" "90" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000960227" "00025652" "90" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Leu208Pro)" "" "0000960230" "00025652" "70" "314" "0" "314" "0" "c.314C>T" "r.314c>u" "p.Thr105Ile" "" "0000960231" "00025652" "70" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Thr105Ile)" "" "0000960232" "00025652" "30" "1817" "0" "1817" "0" "c.*938A>G" "r.*938Aa>g" "p.=" "" "0000960233" "00025652" "30" "1817" "0" "1817" "0" "c.*938A>G" "r.*938Aa>g" "p.=" "" "0000991629" "00025652" "50" "67" "0" "67" "0" "c.67C>A" "r.(?)" "p.(Leu23Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000388927" "0000817720" "0000449740" "0000960221" "0000449741" "0000960222" "0000449742" "0000960223" "0000449743" "0000960224" "0000449744" "0000960225" "0000449745" "0000960226" "0000449746" "0000960227" "0000449747" "0000960230" "0000449748" "0000960231" "0000449749" "0000960232" "0000449750" "0000960233"