### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DOHH) # 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}}" "DOHH" "deoxyhypusine hydroxylase/monooxygenase" "19" "p13.3" "unknown" "NC_000019.9" "UD_136086640400" "" "https://www.LOVD.nl/DOHH" "" "1" "28662" "83475" "611262" "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/DOHH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-10 11:39:05" "00000" "2025-11-01 13:22:20" ## 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}}" "00025726" "DOHH" "transcript variant 1" "001" "NM_001145165.1" "" "NP_001138637.1" "" "" "" "-452" "1580" "909" "3500938" "3490819" "00006" "2022-08-10 11:37:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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}}" "DOHH" "05611" ## 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}}" "00415241" "" "" "" "1" "" "00006" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Korea, South (Republic);France" "" "0" "" "" "" "Fam1Pat1" "00415242" "" "" "" "2" "" "00006" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "2 generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "Bosnia and Herzegovina;Croatia (Hrvatska)" "15y" "0" "" "" "Bosnia" "Fam2Pat2" "00415243" "" "" "" "1" "" "00006" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "brother" "M" "" "Bosnia and Herzegovina;Croatia (Hrvatska)" "" "0" "" "" "Bosnia" "Fam2Pat3" "00415244" "" "" "" "1" "" "00006" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Fam3Pat4" "00415245" "" "" "" "1" "" "00006" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "25m" "0" "" "" "" "Fam4Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00415241" "05611" "00415242" "05611" "00415243" "05611" "00415244" "05611" "00415245" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000307039" "05611" "00415241" "00006" "Familial, autosomal recessive" "7y10m" "birth 39w, weight 2,670 g (-1.36 SD), length 46 cm (-1.76 SD), OFC 34 cm (0 SD); neonatal hypotonia, temperature instability, poor feeding; 5y6m-height 95 cm (-3 SD), weight 11.4 kg (-3 SD), OFC 44.5 cm (-3.8 SD); not sitting; not walking; no speech; normal behavior; no seizures; severe hypotonia; MRI brain 3y-diffuse cerebral atrophy with overly visible furrows and ventricular dilation due to atrophy, cerebellar atrophy, thin corpus callosum; no cardiac anomalies; horizontal nystagmus, cortical visual impairment; no recurrent infections" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000307040" "05611" "00415242" "00006" "Familial, autosomal recessive" "15y" "15y-died; birth 40w, weight 3,000 g (-1.12 SD), length 51 cm (-0.32 SD), ; no neonatal problems; 7y9m-height 114.8 cm (-1.8 SD), weight 16.8 kg (-2.56 SD), OFC 46.5 cm (-4.86 SD); 13m-sit; 3y6m-walk ; no speech; shy, stubborn, hyperactive; 5y/8y-2 occurences of tonic-clonic fever-associated seizures; hypotonia; MRI brain 4y-hypomyelination, cortical atrophy; incomplete atrioventricular canal, atrial septal defect type 2, ventricular septal defect, global progressive cardiac insufficiency with severe mitral-valve and aortic-valve insufficiency and severe cardiomegaly, which led to exitus letalis, mitral- and aortic-valve replacement and reconstruction was performed, 8y-ECG atrioventricular block; strabismus convergens alternans; recurrent infections" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000307041" "05611" "00415243" "00006" "Familial, autosomal recessive" "17y" "birth 40w, weight 4,210 g (+1.05 SD), length 55 cm (+2 SD), ; no neonatal problems; 15y9m-height 146.5 cm (-3.28 SD), weight 29.2 kg (-4.42 SD), OFC 47.4 cm (-5.98 SD); 29m-sit; 4y9m-walk; no speech; happy demeanor; generalized epilepsy, 11y-drop attacks, 15y-myoclonus, 16y-fever-associated focal seizures then generalized seizures; hypotonia, truncal ataxia; MRI brain 2y-hypomyelination, corpus callosum hypoplasia; ECG atrioventricular block type 1, reduced ventricular function with EF 0.82, Holter ECG; monomorphic ventricular extasystolia, shortened PQ period under effort; strabismus convergens, 16y-ablatio retinae left with unilateral amaurosis; recurrent infections (pneumonia)" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000307042" "05611" "00415244" "00006" "Familial, autosomal recessive" "14y2m" "38w increased nuchal translucency, chylothorax; birth weight 3,290 g +(0.87 SD), length 49 cm (-0.44 SD), OFC 34 cm (-0.8 SD); neonatal hypotonia, poor feeding; 3,040 g (−0.8 SD)-height 128.5 (-2.5 SD), weight 23 kg (-2,5 SD), OFC 50 (-3SD); 20m-sit; 7y-walk; 7y-first words; happy demeanor; no seizures, 2y-EEG normal; hypotonia; MRI brain 5y-cortical atrophy, ventricular dilatation, thin corpus callosum; atrial septal defect, ostium secondum; horizontal nystagmus; no recurrent infections" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000307043" "05611" "00415245" "00006" "Familial, autosomal recessive" "25m" "25m-died; 39w cardiopathy, birth weight 3,040 g (-0.8 SD), length 49.5 cm (-0.2 SD), OFC 34.1 cm (-0.8 SD); neonatal hypotonia; 22m-height 79.2 cm (-2.5 SD), weight 10 kg (-2 SD), OFC 43.6 cm (-3.5SD); not sitting; not walking; no speech; happy demeanor; generalized epilepsy with hyperextension of upper limbs; severe hypotonia; MRI brain 1y-cortical atrophy, enlarged ventricles, thin corpus callosum; Shone syndrome with aortic coarctation, bicuspid aortic valve, tricuspid-valve insufficiency, atrial septal defect, ventricular septal defect; nystagmus, strabismus, severe myopia; recurrent infections, 25m-died from pneumonia" "" "" "" "" "" "" "" "neurodevelopmental delay" ## 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}}" "0000416523" "00415241" "1" "00006" "00006" "2022-08-10 16:14:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416524" "00415242" "1" "00006" "00006" "2022-08-10 16:14:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416525" "00415243" "1" "00006" "00006" "2022-08-10 16:14:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416526" "00415244" "1" "00006" "00006" "2022-08-10 16:14:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416527" "00415245" "1" "00006" "00006" "2022-08-10 16:14:56" "" "" "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 = 15 "{{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}}" "0000874646" "21" "90" "19" "3494074" "3494074" "del" "0" "00006" "DOHH_000007" "g.3494074del" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "c.304del" "ACMG PVS1, PS3, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.3494076del" "" "pathogenic (recessive)" "ACMG" "0000874647" "21" "90" "19" "3491653" "3491653" "subst" "0" "00006" "DOHH_000002" "g.3491653A>G" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG S3, PM2, PM3, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.3491655A>G" "" "pathogenic (recessive)" "ACMG" "0000874648" "21" "90" "19" "3491653" "3491653" "subst" "0" "00006" "DOHH_000002" "g.3491653A>G" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG S3, PM2, PM3, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.3491655A>G" "" "pathogenic (recessive)" "ACMG" "0000874649" "21" "70" "19" "3492297" "3492297" "subst" "0" "00006" "DOHH_000005" "g.3492297G>T" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG PS3, PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.3492299G>T" "" "likely pathogenic (recessive)" "ACMG" "0000874650" "21" "90" "19" "3491745" "3491746" "ins" "0" "00006" "DOHH_000004" "g.3491745_3491746insGTTG" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG PVS1, PS3,PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.3491747_3491748insGTTG" "" "pathogenic (recessive)" "ACMG" "0000874651" "11" "90" "19" "3491559" "3491559" "subst" "0" "00006" "DOHH_000001" "g.3491559A>T" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG PVS1, PS3, PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.3491561A>T" "" "pathogenic (recessive)" "ACMG" "0000874652" "11" "90" "19" "3491745" "3491746" "ins" "0" "00006" "DOHH_000004" "g.3491745_3491746insGTTG" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG PVS1, PS3,PM2, PM3, PP4" "Germline" "yes" "" "0" "" "" "g.3491747_3491748insGTTG" "" "pathogenic (recessive)" "ACMG" "0000874653" "11" "90" "19" "3491745" "3491746" "ins" "0" "00006" "DOHH_000004" "g.3491745_3491746insGTTG" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG PVS1, PS3,PM2, PM3, PP4" "Germline" "yes" "" "0" "" "" "g.3491747_3491748insGTTG" "" "pathogenic (recessive)" "ACMG" "0000874654" "11" "90" "19" "3492394" "3492394" "subst" "0.000211456" "00006" "DOHH_000006" "g.3492394G>A" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG PS3, PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.3492396G>A" "" "pathogenic (recessive)" "ACMG" "0000874655" "11" "70" "19" "3491731" "3491731" "subst" "0" "00006" "DOHH_000003" "g.3491731G>A" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "ACMG PS3, PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.3491733G>A" "" "likely pathogenic (recessive)" "ACMG" "0000951270" "0" "50" "19" "3492394" "3492394" "subst" "0.000211456" "02329" "DOHH_000006" "g.3492394G>A" "" "" "" "DOHH(NM_001145165.2):c.455C>T (p.(Pro152Leu)), DOHH(NM_031304.5):c.455C>T (p.P152L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983368" "0" "90" "19" "3491745" "3491746" "ins" "0" "01804" "DOHH_000004" "g.3491745_3491746insGTTG" "" "" "" "DOHH(NM_001145165.2):c.654_655insAACC (p.(Glu219Asnfs*54))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983369" "0" "50" "19" "3492274" "3492274" "del" "0" "01804" "DOHH_000008" "g.3492274del" "" "" "" "DOHH(NM_001145165.2):c.575del (p.(Leu192ArgfsTer136))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042853" "0" "70" "19" "3492394" "3492394" "subst" "0.000211456" "01804" "DOHH_000006" "g.3492394G>A" "" "" "" "DOHH(NM_001145165.2):c.455C>T (p.(Pro152Leu)), DOHH(NM_031304.5):c.455C>T (p.P152L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056422" "0" "50" "19" "3492473" "3492473" "subst" "0" "01804" "DOHH_000009" "g.3492473C>T" "" "" "" "DOHH(NM_001145165.2):c.376G>A (p.(Val126Met))" "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 DOHH ## Count = 15 "{{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}}" "0000874646" "00025726" "50" "304" "0" "304" "0" "c.304delG" "r.(?)" "p.(Glu102LysfsTer6)" "" "0000874647" "00025726" "50" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Ile249Thr)" "" "0000874648" "00025726" "50" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Ile249Thr)" "" "0000874649" "00025726" "50" "552" "0" "552" "0" "c.552C>A" "r.(?)" "p.(Asn184Lys)" "" "0000874650" "00025726" "50" "654" "0" "655" "0" "c.654_655insAACC" "r.(?)" "p.(Glu219AsnfsTer54)" "" "0000874651" "00025726" "50" "840" "0" "840" "0" "c.840T>A" "r.(?)" "p.(Tyr280Ter)" "" "0000874652" "00025726" "50" "654" "0" "655" "0" "c.654_655insAACC" "r.(?)" "p.(Glu219AsnfsTer54)" "" "0000874653" "00025726" "50" "654" "0" "655" "0" "c.654_655insAACC" "r.(?)" "p.(Glu219AsnfsTer54)" "" "0000874654" "00025726" "50" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Pro152Leu)" "" "0000874655" "00025726" "50" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Pro223Leu)" "" "0000951270" "00025726" "50" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Pro152Leu)" "" "0000983368" "00025726" "90" "654" "0" "655" "0" "c.654_655insAACC" "r.(?)" "p.(Glu219Asnfs*54)" "" "0000983369" "00025726" "50" "575" "0" "575" "0" "c.575del" "r.(?)" "p.(Leu192Argfs*136)" "" "0001042853" "00025726" "70" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Pro152Leu)" "" "0001056422" "00025726" "50" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000416523" "0000874646" "0000416523" "0000874651" "0000416524" "0000874647" "0000416524" "0000874652" "0000416525" "0000874648" "0000416525" "0000874653" "0000416526" "0000874649" "0000416526" "0000874654" "0000416527" "0000874650" "0000416527" "0000874655"