### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = METTL5) # 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}}" "METTL5" "methyltransferase like 5" "2" "q31.1" "unknown" "NC_000002.11" "UD_133485316494" "" "https://www.LOVD.nl/METTL5" "" "1" "25006" "29081" "618628" "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/METTL5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-28 08:07:51" "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}}" "00012028" "METTL5" "methyltransferase like 5" "001" "NM_014168.2" "" "NP_054887.2" "" "" "" "-246" "693" "630" "170681353" "170668267" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05982" "MRT72" "intellectual developmental disorder, autosomal recessive, type 12 (MRT72)" "AR" "618665" "" "" "" "00006" "2021-10-28 08:07:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "METTL5" "00139" "METTL5" "04147" "METTL5" "05982" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00307954" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "F" "" "" "" "0" "" "" "" "11DG1842" "00318016" "" "" "" "5" "" "00006" "{PMID:Riazuddin 2017:27457812}, {PMID:Richard 2019:31564433}" "2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Pathan" "FamPKMR43PatII1" "00386944" "" "" "00318016" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}, {PMID:Richard 2019:31564433}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "Pathan" "FamPKMR43PatII2" "00386945" "" "" "00318016" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}, {PMID:Richard 2019:31564433}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "Pathan" "FamPKMR43PatII3" "00386946" "" "" "" "2" "" "00006" "{PMID:Richard 2019:31564433}" "3-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Germany" "" "0" "" "" "Yemenite" "FamF47949PatIII3" "00386947" "" "" "00386946" "1" "" "00006" "{PMID:Richard 2019:31564433}" "brother" "M" "yes" "Germany" "" "0" "" "" "Yemenite" "FamF47949PatIII2" "00386948" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "M8600616PatIII3" "00386949" "" "" "00386948" "1" "" "00006" "{PMID:Hu 2019:29302074}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "M8600616PatIII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00307954" "00139" "00318016" "00139" "00386944" "00139" "00386945" "00139" "00386946" "00139" "00386947" "00139" "00386948" "00139" "00386949" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04147, 05982 ## 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}}" "0000233377" "00139" "00307954" "00006" "Familial, autosomal recessive" "1y9m" "see paper; ..., Intellectual disability, Oligodactyly, Aplasia cutis congenita, Posteriorly rotated ears, Prominent nose, Micrognathia" "" "" "" "" "" "" "" "" "intellectual diability" "0000241800" "00139" "00318016" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., weight 32 kg (-4.9 SD), height 152 cm (-1.6 SD), OFC 51 cm (-3.1 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; no hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder; no eye abnormalities; no nose abnormalities; normal mouth; large ears; no hearing loss; no vestibular deficit" "" "" "" "" "" "" "" "MRT72" "intellectual disability" "0000280742" "00139" "00386944" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., weight 50 kg (-0.1 SD), height 157 cm (-0.8 SD), OFC 48 cm (-4.2 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; mild hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder, aggressive; no eye abnormalities; broad nasal base, over hanging nasal tip; normal mouth; normal ear shape; no hearing loss; no vestibular deficit" "" "" "" "" "" "" "" "MRT72" "intellectual disability" "0000280743" "00139" "00386945" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., weight 89 kg (1.9 SD), height 157 cm (-2.7 SD), OFC 51 cm (-2.8 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; no hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder, aggressive; no eye abnormalities; over hanging nasal tip; normal mouth shape, dysplastic teeth; large ears; no hearing loss; no vestibular deficit" "" "" "" "" "" "" "" "MRT72" "intellectual disability" "0000280744" "00139" "00386946" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., weight 16 kg (-3.5 SD), height 114 cm (-2 SD), OFC 46 cm (-5 SD); fetal tachycardia, hydrops fetalis; severe intellectual disability (HP:0010864); no speech; microcephaly; no hypotonia; no epilepsy; spasticity; hand biting, autistic; no eye abnormalities; large nose with broad tip; normal mouth; low-set and posteriorly rotated ears; no hearing loss; no vestibular deficit" "" "" "" "" "" "" "" "MRT72" "intellectual disability" "0000280745" "00139" "00386947" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., weight 26 kg (-2.8 SD), height 135 cm (-2.3 SD), OFC 48 cm (-4.7 SD); atrial septal defect type II, pulmonic stenosis; moderate/severe intellectual disability; speech delay , 4–5 word sentences; microcephaly; no hypotonia; no epilepsy; spasticity; hand biting, autistic; no eye abnormalities; large nose with broad tip; normal mouth; low-set and posteriorly rotated ears; no hearing loss; no vestibular deficit" "" "" "" "" "" "" "" "MRT72" "intellectual disability" "0000280746" "00139" "00386948" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., height 133 cm (25%ile), OFC 46 cm (-7 SD); severe intellectual disability (HP:0010864); speech delay, slurred speech; microcephaly; no epilepsy; short temper, aggressive; strabismus; narrow nasal base, broad nasal ridge; long philtrum and thin upper lip; large ears; unbalanced gait" "" "" "" "" "" "" "" "" "intellectual disability" "0000280747" "00139" "00386949" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., height 95 cm (3%ile), OFC 44 cm(-8 SD); severe intellectual disability (HP:0010864); microcephaly; seizure; short temper, aggressive; strabismus; narrow nasal base, broad nasal ridge; long philtrum and thin upper lip; normal ear shape; no vestibular deficit" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000309098" "00307954" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000319198" "00318016" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388171" "00386944" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388172" "00386945" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388173" "00386946" "1" "00006" "00006" "2021-10-28 08:42:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388174" "00386947" "1" "00006" "00006" "2021-10-28 08:42:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388175" "00386948" "1" "00006" "00006" "2021-10-28 08:59:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000388176" "00386949" "1" "00006" "00006" "2021-10-28 09:05:17" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000309098" "METTL5" "0000319198" "METTL5" "0000388171" "METTL5" "0000388172" "METTL5" ## 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 = 13 "{{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}}" "0000683561" "3" "70" "2" "170678452" "170678452" "subst" "0" "00006" "METTL5_000001" "g.170678452C>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "Germline" "" "" "0" "" "" "g.169821942C>T" "" "likely pathogenic (recessive)" "ACMG" "0000701862" "3" "90" "2" "170677664" "170677665" "del" "0" "00006" "METTL5_000002" "g.170677664_170677665del" "" "{PMID:Riazuddin 2017:27457812},{PMID:Richard 2019:31564433}" "" "344_345delGA" "" "Germline" "yes" "" "0" "" "" "g.169821154_169821155del" "" "pathogenic (recessive)" "" "0000816615" "3" "90" "2" "170677664" "170677665" "del" "0" "00006" "METTL5_000002" "g.170677664_170677665del" "" "{PMID:Riazuddin 2017:27457812},{PMID:Richard 2019:31564433}" "" "344_345delGA" "" "Germline" "yes" "" "0" "" "" "g.169821154_169821155del" "" "pathogenic (recessive)" "" "0000816616" "3" "90" "2" "170677664" "170677665" "del" "0" "00006" "METTL5_000002" "g.170677664_170677665del" "" "{PMID:Riazuddin 2017:27457812},{PMID:Richard 2019:31564433}" "" "344_345delGA" "" "Germline" "yes" "" "0" "" "" "g.169821154_169821155del" "" "pathogenic (recessive)" "" "0000816617" "3" "90" "2" "170668986" "170668987" "del" "0" "00006" "METTL5_000003" "g.170668986_170668987del" "" "{PMID:Richard 2019:31564433}" "" "571_572delAA" "" "Germline" "yes" "" "0" "" "" "g.169812476_169812477del" "" "pathogenic (recessive)" "" "0000816618" "3" "90" "2" "170668986" "170668987" "del" "0" "00006" "METTL5_000003" "g.170668986_170668987del" "" "{PMID:Richard 2019:31564433}" "" "571_572delAA" "" "Germline" "yes" "" "0" "" "" "g.169812476_169812477del" "" "pathogenic (recessive)" "" "0000816619" "3" "75" "2" "170678495" "170678495" "subst" "0" "00006" "METTL5_000004" "g.170678495C>T" "" "{PMID:Hu 2019:29302074}, {PMID:Richard 2019:31564433}" "" "" "in vitro functional analysis does not show an effect on function (methyltransferase activity not tested)" "Germline" "yes" "" "0" "" "" "g.169821985C>T" "" "likely pathogenic (!)" "" "0000816620" "3" "75" "2" "170678495" "170678495" "subst" "0" "00006" "METTL5_000004" "g.170678495C>T" "" "{PMID:Hu 2019:29302074}, {PMID:Richard 2019:31564433}" "" "" "in vitro functional analysis does not show an effect on function (methyltransferase activity not tested)" "Germline" "yes" "" "0" "" "" "g.169821985C>T" "" "likely pathogenic (!)" "" "0000883917" "0" "50" "2" "170677622" "170677622" "subst" "0" "02329" "METTL5_000005" "g.170677622A>G" "" "" "" "METTL5(NM_014168.4):c.386T>C (p.F129S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961438" "0" "50" "2" "170677646" "170677646" "subst" "1.24164E-5" "02327" "METTL5_000006" "g.170677646T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961439" "0" "50" "2" "170677784" "170677784" "subst" "0" "02327" "METTL5_000007" "g.170677784C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974468" "0" "50" "2" "170678478" "170678478" "subst" "0" "01804" "METTL5_000008" "g.170678478T>A" "" "" "" "METTL5(NM_014168.4):c.199A>T (p.(Ile67Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032524" "0" "50" "2" "170668990" "170668990" "subst" "1.21903E-5" "01804" "METTL5_000009" "g.170668990A>G" "" "" "" "METTL5(NM_014168.4):c.568T>C (p.(Tyr190His))" "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 METTL5 ## Count = 13 "{{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}}" "0000683561" "00012028" "70" "224" "1" "224" "1" "c.224+1G>A" "r.spl" "p.?" "" "0000701862" "00012028" "90" "344" "0" "345" "0" "c.344_345del" "r.(?)" "p.(Arg115Asnfs*19)" "" "0000816615" "00012028" "90" "344" "0" "345" "0" "c.344_345del" "r.(?)" "p.(Arg115Asnfs*19)" "" "0000816616" "00012028" "90" "344" "0" "345" "0" "c.344_345del" "r.(?)" "p.(Arg115Asnfs*19)" "" "0000816617" "00012028" "90" "571" "0" "572" "0" "c.571_572del" "r.(?)" "p.(Lys191Valfs*10)" "" "0000816618" "00012028" "90" "571" "0" "572" "0" "c.571_572del" "r.(?)" "p.(Lys191Valfs*10)" "" "0000816619" "00012028" "75" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Asp)" "" "0000816620" "00012028" "75" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Asp)" "" "0000883917" "00012028" "50" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Phe129Ser)" "" "0000961438" "00012028" "50" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Asp121Gly)" "" "0000961439" "00012028" "50" "225" "-1" "225" "-1" "c.225-1G>C" "r.spl?" "p.?" "" "0000974468" "00012028" "50" "199" "0" "199" "0" "c.199A>T" "r.(?)" "p.(Ile67Phe)" "" "0001032524" "00012028" "50" "568" "0" "568" "0" "c.568T>C" "r.(?)" "p.(Tyr190His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000309098" "0000683561" "0000319198" "0000701862" "0000388171" "0000816615" "0000388172" "0000816616" "0000388173" "0000816617" "0000388174" "0000816618" "0000388175" "0000816619" "0000388176" "0000816620"