### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HIST1H4I) # 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}}" "HIST1H4I" "histone cluster 1, H4i" "6" "p22.1" "unknown" "NC_000006.11" "UD_136087466263" "" "https://www.LOVD.nl/HIST1H4I" "" "1" "4793" "8294" "602833" "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/HIST1H4I_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-02 10:58:20" "00000" "2024-08-28 13:16:32" ## 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}}" "00009396" "HIST1H4I" "histone cluster 1, H4i" "001" "NM_003495.2" "" "NP_003486.1" "" "" "" "1" "370" "312" "27107088" "27107457" "" "0000-00-00 00:00:00" "" "" ## 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}}" "HIST1H4I" "05611" ## 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}}" "00404446" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat26" "00404447" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "M" "" "France" "" "0" "" "" "" "Pat27" "00404448" "" "" "" "1" "" "00006" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "F" "" "United Kingdom (Great Britain);Belgium" "29y" "0" "" "" "" "Pat28" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00404446" "05611" "00404447" "05611" "00404448" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 3 "{{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}}" "0000297038" "05611" "00404446" "00006" "Isolated (sporadic)" "10y5m" "height 127.6 cm (-2.04 SD), weight 24.4.kg (-2.08 SD), OFC 48 cm (-4.12 SD); learning difficulties, delayed visual acuity; social communication probs and learning difficulties; pre-auricular ear pit and 5 pre auricular tags, hypertelorism, short philtrum, prominent philtrum.; lactose intolerance; absent left kidney; hypermobility, bilateral mild webbing 3-4 fingers; moderate bilateral conductive hearing loss; decreased visual acuity; V shaped buttock cleft.;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000297039" "05611" "00404447" "00006" "Isolated (sporadic)" "3y8m" "birth 41+6w length 47 cm (-2.78 SD)birth 41+6w length 47 cm (-2.78 SD), weight 2.8 kg (-2.29 SD), OFC 34.5 cm (-1.41 SD); height 92 cm (-2.13 SD) (GH trmt), weight 11.18 kg (-3.34 SD), OFC 50 cm (-1.39 SD); hypotonia; MRI 23m-moderate enlargement of peri-cerebral spaces, pineal cyst 15mm, corpus callosum rather short remaining ht limits quite lower than normal with a ratio corpus callosum/OFC at 0.37; psychomotor delay, can sit but not walk; everted upper lip, depressed nasal bridge, micrognathia, strabism, low-set posteriorly rotated ears, right preauricular pits; G-tube dependent; micropenis cryptorchidism; Malposition of the toes; sero-muscous otitis; divergent strabismus with amblyopia; normal haematopoiesis, normal iImmune functioning; bilateral single palmar crease;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000297040" "05611" "00404448" "00006" "Isolated (sporadic)" "29y" "deceased; birth 40w length 54 cm (+2.02 SD)birth 40w length 54 cm (+2.02 SD), weight 3.66 kg (+0.55 SD), OFC 32.8 cm (-1.41 SD); height 161.5 cm (-0.38 SD), weight 55 kg (-0.42 SD), OFC 52 cm (-2.54 SD); intellectual disability; CT scan hydrocephaly; global developmental delay; narrow forehead, bi-temporal narrowing, arched eyebrows, hypertelorism, down-slanting palpebral fissures, high nasal bridge, short philtrum, large uvula with median raphe, misfolding ears, one preauricular pit on left side and 3 on right side; supernumerary nipple; severe bilateral vesico-ureteral reflux, pyeloureteral junction syndrome; rocker bottom feet, bilateral coronal craniosynostosis, dorsal kyphosis, scoliosis, left hand : 3-5 camptodactyly, right hand : 2-5 camptodactyly, bilateral sandal gap, bilateral halux valgus, bilateral partial 2-3 toes syndactyly; hearing loss : significant, bilateral, endocochlear dysfunction; strabismus - surgery at 14 y; myelodysplasia, leukaemia; ASDII;" "" "" "" "" "" "" "" "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}}" "0000405685" "00404446" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405686" "00404447" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405687" "00404448" "1" "00006" "00006" "2022-03-02 10:20:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 5 "{{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}}" "0000621685" "0" "30" "6" "27114317" "27114317" "subst" "0" "01943" "HIST1H2BK_000001" "g.27114317G>A" "" "" "" "HIST1H2BK(NM_080593.2):c.261C>T (p.R87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27146538G>A" "" "likely benign" "" "0000841794" "0" "90" "6" "27107209" "27107209" "subst" "0" "00006" "HIST1H4I_000001" "g.27107209G>T" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.27139430G>T" "" "pathogenic (dominant)" "" "0000841795" "0" "90" "6" "27107314" "27107314" "subst" "0" "00006" "HIST1H4I_000002" "g.27107314A>G" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.27139535A>G" "" "pathogenic (dominant)" "" "0000841796" "0" "90" "6" "27107314" "27107314" "subst" "0" "00006" "HIST1H4I_000002" "g.27107314A>G" "" "{PMID:Tessadori 2022:35202563}, {DOI:Tessadori 2022:10.1016/j.ajhg.2022.02.003}" "" "" "" "De novo" "" "" "0" "" "" "g.27139535A>G" "" "pathogenic (dominant)" "" "0000995617" "0" "50" "6" "27107397" "27107397" "subst" "0" "01804" "HIST1H2BK_000003" "g.27107397T>G" "" "" "" "HIST1H4I(NM_003495.2):c.310T>G (p.(Ter104Gluext*?))" "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 HIST1H4I ## Count = 5 "{{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}}" "0000621685" "00009396" "30" "7230" "0" "7230" "0" "c.*6918G>A" "r.(=)" "p.(=)" "" "0000841794" "00009396" "90" "122" "0" "122" "0" "c.122G>T" "r.(?)" "p.(Arg41Leu)" "" "0000841795" "00009396" "90" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(His76Arg)" "" "0000841796" "00009396" "90" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(His76Arg)" "" "0000995617" "00009396" "50" "310" "0" "310" "0" "c.310T>G" "r.(?)" "p.(*104Gluext*4)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000405685" "0000841794" "0000405686" "0000841795" "0000405687" "0000841796"