### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HIST1H4J) # 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}}" "HIST1H4J" "histone cluster 1, H4j" "6" "p22.1" "unknown" "NC_000006.11" "UD_132438730707" "" "https://www.LOVD.nl/HIST1H4J" "" "1" "4785" "8363" "602826" "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/HIST1H4J_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-02 10:59:34" "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}}" "00009397" "HIST1H4J" "histone cluster 1, H4j" "001" "NM_021968.3" "" "NP_068803.1" "" "" "" "1" "356" "312" "27791903" "27792258" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06901" "TEVANED2" "Tessadori-van Haaften neurodevelopmental syndrome, type 2" "" "619759" "" "" "" "00006" "2022-03-02 11:00:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HIST1H4J" "05611" "HIST1H4J" "06901" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00213099" "" "" "" "1" "" "00006" "personal communication" "" "" "" "" "" "0" "" "" "" "" "00266138" "" "" "" "1" "" "01188" "" "" "M" "no" "United States" "" "0" "" "" "" "" "00404449" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "M" "" "France" "" "0" "" "" "" "Pat29" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00213099" "00198" "00266138" "00198" "00404449" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 06901 ## Count = 3 "{{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}}" "0000161580" "00198" "00213099" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "developmental syndrome" "" "0000204014" "00198" "00266138" "01188" "Unknown" "13y" "Microcephaly, hypotonia, developmental delay, growth retardation, intellectual disability\r\nMRI: Mild prominence of the supratentorial sulci and cisterns\r\nCraniofacial features: upslanting palpebral fissures, hypertelorism, periorbital fullness, flat nasal bridge, wide mouth, short philtrum \r\nOther: Pervasive developmental delay, hypospadias" "" "" "" "" "" "" "" "" "" "" "0000297041" "05611" "00404449" "00006" "Isolated (sporadic)" "10m" "birth 37w length 43 cm (-2.81 SD), weight 1.93 kg (-2.41 SD), OFC 29 cm (-3.39 SD); height 64.5 cm (-3.24 SD), weight 6.5 kg (-3.37 SD), OFC 40.5 cm (-5.14 SD); neonatal hypotonia, language delay; delayed development (headgear acquired at 8 months, poor gestures at 10 months, amimia, he turns around at 15 months); round face, epicanthi, almond-shaped eyes, upslanting palpebral fissures, broad nasal bridge, down-turned corners of mouth, everted upper lip vermilion; nasogastric tube during the first three weeks of life, oral disorder; clear skin; hypospadias, bilateral cryptorchidism; 30dB threshold on the right and 40 dB on the left with transtympanic aerators; normal haematopoiesis, normal iImmune functioning" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000214174" "00213099" "1" "00006" "00006" "2019-01-09 20:31:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000267263" "00266138" "1" "01188" "01188" "2019-10-14 15:53:32" "01188" "2019-10-17 12:16:34" "SEQ-NG-I" "DNA" "blood" "" "0000405688" "00404449" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000214174" "HIST1H4J" "0000267263" "HIST1H4J" ## 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 = 9 "{{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}}" "0000256286" "0" "50" "6" "27791903" "27791903" "subst" "0" "01943" "HIST1H4J_000001" "g.27791903A>G" "" "" "" "HIST1H4J(NM_021968.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27824125A>G" "" "VUS" "" "0000446109" "0" "90" "6" "27792176" "27792176" "subst" "0" "00006" "HIST1H4J_000002" "g.27792176A>G" "" "" "" "Lys91Glu" "" "De novo" "" "" "0" "" "" "g.27824398A>G" "" "pathogenic (dominant)" "" "0000528148" "0" "50" "6" "27792117" "27792117" "subst" "0" "01943" "HIST1H4J_000003" "g.27792117C>T" "" "" "" "HIST1H4J(NM_021968.3):c.215C>T (p.T72I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27824339C>T" "" "VUS" "" "0000598305" "0" "90" "6" "27792176" "27792176" "subst" "0" "01188" "HIST1H4J_000002" "g.27792176A>G" "" "" "" "p.K91E" "" "De novo" "" "" "0" "" "" "g.27824398A>G" "" "pathogenic (dominant)" "" "0000841797" "0" "90" "6" "27792023" "27792023" "subst" "0" "00006" "HIST1H4J_000004" "g.27792023C>T" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.27824245C>T" "" "pathogenic (dominant)" "" "0000977132" "0" "50" "6" "27792138" "27792138" "subst" "0" "01804" "HIST1H4J_000005" "g.27792138G>A" "" "" "" "HIST1H4J(NM_021968.3):c.236G>A (p.(Arg79His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995619" "0" "50" "6" "27792018" "27792018" "subst" "0" "02327" "HIST1H4J_000006" "g.27792018C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995620" "0" "50" "6" "27792088" "27792088" "subst" "0" "01804" "HIST1H4J_000007" "g.27792088C>G" "" "" "" "HIST1H4J(NM_021968.3):c.186C>G (p.(Phe62Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052288" "0" "50" "6" "27792138" "27792138" "subst" "0" "01804" "HIST1H4J_000008" "g.27792138G>T" "" "" "" "HIST1H4J(NM_021968.4):c.236G>T (p.(Arg79Leu))" "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 HIST1H4J ## Count = 9 "{{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}}" "0000256286" "00009397" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000446109" "00009397" "90" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Lys92Glu)" "" "0000528148" "00009397" "50" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Thr72Ile)" "" "0000598305" "00009397" "90" "274" "0" "274" "0" "c.274A>G" "r.(291a>g)" "p.(Lys92Glu)" "1" "0000841797" "00009397" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Cys)" "" "0000977132" "00009397" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79His)" "" "0000995619" "00009397" "50" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Ala39Gly)" "" "0000995620" "00009397" "50" "186" "0" "186" "0" "c.186C>G" "r.(?)" "p.(Phe62Leu)" "" "0001052288" "00009397" "50" "236" "0" "236" "0" "c.236G>T" "r.(?)" "p.(Arg79Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000214174" "0000446109" "0000267263" "0000598305" "0000405688" "0000841797"