### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALKBH8) # 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}}" "ALKBH8" "alkB, alkylation repair homolog 8 (E. coli)" "11" "q22.3" "unknown" "NC_000011.9" "UD_136018692727" "" "https://www.LOVD.nl/ALKBH8" "" "1" "25189" "91801" "613306" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ALKBH8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-11-11 17:10:46" "00006" "2025-11-11 17:29:07" ## 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}}" "00002390" "ALKBH8" "alkB, alkylation repair homolog 8 (E. coli)" "001" "NM_138775.2" "" "NP_620130.2" "" "" "" "-141" "3926" "1995" "107436461" "107373453" "" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06147" "MRT71" "Intellectual developmental disorder, autosomal recessive 71" "AR" "618504" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ALKBH8" "00139" "ALKBH8" "06147" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00240154" "" "" "" "3" "" "00006" "{PMID:Monies 2019:31079898}" "4-generation family, 3 affected (2 brothers/sister), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "Family 1" "00240155" "" "" "" "4" "" "00006" "{PMID:Monies 2019:31079898}" "5-generation family, 4 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Family 2" "00465983" "" "" "" "1" "" "03566" "{PMID:Waqas 2022:35571055}, {DOI:Waqas 2022:10.3389/fgene.2022.878274}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "-" "Pakistan" "" "0" "" "" "" "FamPatIV1" "00468567" "" "" "" "2" "" "00006" "{PMID:Saad 2021:33544954}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "M" "" "Egypt" "" "0" "" "" "" "FamPatBAB13277" "00468568" "" "" "" "2" "" "00006" "{PMID:Maddirevula 2022:34757492}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Yemen" "" "0" "" "" "" "FamPatII2/3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00240154" "00139" "00240155" "00139" "00465983" "00198" "00468567" "00139" "00468568" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 06147 ## Count = 5 "{{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}}" "0000180305" "00139" "00240154" "00006" "Familial, autosomal recessive" "" "see paper; …, intellectual disability (3/3), epilepsy (2/3), global developmental delay (3/3)" "" "" "" "" "" "" "" "" "MRT71" "intellectual disability" "" "0000180306" "00139" "00240155" "00006" "Familial, autosomal recessive" "" "see paper; …, intellectual disability (4/4), epilepsy (4/4), global developmental delay (4/4)" "" "" "" "" "" "" "" "" "MRT71" "intellectual disability" "" "0000351369" "00198" "00465983" "03566" "Familial, autosomal recessive" "14y" "see paper; ..., developmental delay; normal pregnancy; global developmental delay; speech delay; mild–intellectual disability; seizure; hypotonia; ; weak reflexes; mild hyperactivity; no anxiety; normal sleep; no repetitive tics; no major deficiency in memory/mathematical abilities; dysmorphic features; 14y-height 146cm, weight 47kg, OFC 51,5cm; MRI brain normal; polydactyly; normal hearing; no eye anomalies; ECG normal; no muscular anomalies" "00y06m" "" "developmental delay" "" "" "" "" "" "MRT71" "neurodevelopmental disorder" "" "0000353720" "00139" "00468567" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., intellectual disability, global developmental delay" "" "" "" "" "" "" "" "" "MRT71" "intellectual disability" "" "0000353721" "00139" "00468568" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., developmental delay; intellectual disability" "" "" "developmental delay" "" "" "" "" "" "MRT71" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000241256" "00240154" "1" "00006" "00006" "2019-06-11 17:44:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000241257" "00240155" "1" "00006" "00006" "2019-06-11 17:44:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467633" "00465983" "1" "03566" "03566" "2025-07-01 08:30:10" "" "" "SEQ-NG-IT" "DNA" "" "" "0000470235" "00468567" "1" "00006" "00006" "2025-11-11 17:20:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000470236" "00468568" "1" "00006" "00006" "2025-11-11 17:27:26" "" "" "SEQ-NG" "RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000241256" "ALKBH8" "0000241257" "ALKBH8" ## 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 = 19 "{{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}}" "0000322490" "0" "50" "11" "107396311" "107396311" "subst" "0.00071182" "01804" "ALKBH8_000001" "g.107396311A>C" "" "" "" "ALKBH8(NM_138775.2):c.886T>G (p.(Cys296Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107525585A>C" "" "VUS" "" "0000322491" "0" "50" "11" "107427622" "107427622" "subst" "0.00198258" "01804" "ALKBH8_000002" "g.107427622G>C" "" "" "" "ALKBH8(NM_138775.2):c.237C>G (p.(Asn79Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107556896G>C" "" "VUS" "" "0000487120" "3" "90" "11" "107375728" "107375728" "subst" "6.58233E-6" "00006" "ALKBH8_000003" "g.107375728G>A" "" "{PMID:Monies 2019:31079898}" "" "M_001301010.1:c.1660C>T" "" "Germline" "yes" "" "0" "" "" "g.107505002G>A" "" "pathogenic (recessive)" "" "0000487121" "3" "90" "11" "107375596" "107375596" "del" "0" "00006" "ALKBH8_000004" "g.107375596del" "" "{PMID:Monies 2019:31079898}" "" "NM_001301010.1:c.1794delC" "" "Germline" "yes" "" "0" "" "" "g.107504870del" "" "pathogenic (recessive)" "" "0000723076" "0" "30" "11" "107393268" "107393268" "subst" "6.63975E-5" "01943" "ALKBH8_000005" "g.107393268G>A" "" "" "" "ALKBH8(NM_138775.2):c.1044C>T (p.V348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723077" "0" "50" "11" "107396289" "107396289" "subst" "0" "01943" "ALKBH8_000006" "g.107396289T>C" "" "" "" "ALKBH8(NM_138775.2):c.908A>G (p.Q303R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979283" "0" "50" "11" "107375610" "107375610" "subst" "0" "01804" "ALKBH8_000007" "g.107375610T>C" "" "" "" "ALKBH8(NM_138775.3):c.1769A>G (p.(Gln590Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979284" "0" "50" "11" "107396214" "107396214" "subst" "0" "01804" "ALKBH8_000008" "g.107396214C>T" "" "" "" "ALKBH8(NM_138775.3):c.983G>A (p.(Arg328Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979285" "0" "50" "11" "107427711" "107427711" "subst" "0" "01804" "ALKBH8_000009" "g.107427711C>T" "" "" "" "ALKBH8(NM_138775.3):c.148G>A (p.(Gly50Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979286" "0" "30" "11" "107427713" "107427713" "subst" "0.000957863" "01804" "ALKBH8_000010" "g.107427713T>C" "" "" "" "ALKBH8(NM_138775.3):c.146A>G (p.(Asn49Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038160" "0" "50" "11" "107375893" "107375893" "subst" "4.65475E-5" "01804" "ALKBH8_000011" "g.107375893C>G" "" "" "" "ALKBH8(NM_138775.3):c.1486G>C (p.(Gly496Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038161" "0" "50" "11" "107375937" "107375937" "subst" "0.000141546" "01804" "ALKBH8_000012" "g.107375937C>T" "" "" "" "ALKBH8(NM_138775.3):c.1442G>A (p.(Arg481His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038162" "0" "30" "11" "107381618" "107381618" "subst" "0.00506851" "01804" "ALKBH8_000013" "g.107381618T>C" "" "" "" "ALKBH8(NM_138775.3):c.1432A>G (p.(Thr478Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038163" "0" "50" "11" "107381717" "107381717" "subst" "8.52795E-5" "01804" "ALKBH8_000014" "g.107381717T>A" "" "" "" "ALKBH8(NM_138775.3):c.1333A>T (p.(Arg445Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038164" "0" "50" "11" "107396298" "107396298" "subst" "0.000579806" "01804" "ALKBH8_000015" "g.107396298T>C" "" "" "" "ALKBH8(NM_138775.3):c.899A>G (p.(Asp300Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038165" "0" "50" "11" "107431574" "107431576" "del" "0" "01804" "ALKBH8_000016" "g.107431574_107431576del" "" "" "" "ALKBH8(NM_138775.3):c.49_51del (p.(Lys17del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045515" "3" "90" "11" "107375868" "107375868" "subst" "0" "03566" "ALKBH8_000017" "g.107375868C>G" "" "{PMID:Waqas 2022:35571055}, {DOI:Waqas 2022:10.3389/fgene.2022.878274}" "" "" "" "Germline" "" "" "0" "" "" "g.107505142C>G" "" "likely pathogenic (recessive)" "ACMG" "0001058347" "3" "90" "11" "107375708" "107375708" "del" "0" "00006" "ALKBH8_000018" "g.107375708del" "" "{PMID:Saad 2021:33544954}" "" "NM_001301010.1:c.1684delC" "" "Germline" "yes" "" "0" "" "" "g.107504982del" "" "pathogenic (recessive)" "" "0001058348" "3" "90" "11" "107375505" "107375505" "subst" "0" "00006" "ALKBH8_000019" "g.107375505C>T" "" "{PMID:Maddirevula 2022:34757492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.107504779C>T" "" "pathogenic (recessive)" "" ## 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 ALKBH8 ## Count = 19 "{{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}}" "0000322490" "00002390" "50" "886" "0" "886" "0" "c.886T>G" "r.(?)" "p.(Cys296Gly)" "" "0000322491" "00002390" "50" "237" "0" "237" "0" "c.237C>G" "r.(?)" "p.(Asn79Lys)" "" "0000487120" "00002390" "90" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Arg551*)" "" "0000487121" "00002390" "90" "1785" "0" "1785" "0" "c.1785del" "r.(?)" "p.(Trp596Glyfs*19)" "" "0000723076" "00002390" "30" "1044" "0" "1044" "0" "c.1044C>T" "r.(?)" "p.(Val348=)" "" "0000723077" "00002390" "50" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Gln303Arg)" "" "0000979283" "00002390" "50" "1769" "0" "1769" "0" "c.1769A>G" "r.(?)" "p.(Gln590Arg)" "" "0000979284" "00002390" "50" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328Gln)" "" "0000979285" "00002390" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Gly50Ser)" "" "0000979286" "00002390" "30" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Asn49Ser)" "" "0001038160" "00002390" "50" "1486" "0" "1486" "0" "c.1486G>C" "r.(?)" "p.(Gly496Arg)" "" "0001038161" "00002390" "50" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Arg481His)" "" "0001038162" "00002390" "30" "1432" "0" "1432" "0" "c.1432A>G" "r.(?)" "p.(Thr478Ala)" "" "0001038163" "00002390" "50" "1333" "0" "1333" "0" "c.1333A>T" "r.(?)" "p.(Arg445Trp)" "" "0001038164" "00002390" "50" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(Asp300Gly)" "" "0001038165" "00002390" "50" "49" "0" "51" "0" "c.49_51del" "r.(?)" "p.(Lys17del)" "" "0001045515" "00002390" "90" "1511" "0" "1511" "0" "c.1511G>C" "r.(?)" "p.(Trp504Ser)" "12" "0001058347" "00002390" "90" "1675" "0" "1675" "0" "c.1675del" "r.(?)" "p.(Arg559AlafsTer56)" "" "0001058348" "00002390" "90" "1874" "0" "1874" "0" "c.1874G>A" "r.(?)" "p.(Arg625His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000241256" "0000487120" "0000241257" "0000487121" "0000467633" "0001045515" "0000470235" "0001058347" "0000470236" "0001058348"