### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KLHDC4) # 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}}" "KLHDC4" "kelch domain containing 4" "16" "q24" "unknown" "NC_000016.9" "UD_132378550633" "" "https://www.LOVD.nl/KLHDC4" "" "1" "25272" "54758" "0" "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/KLHDC4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-07 11:41:52" "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}}" "00010660" "KLHDC4" "transcript variant 1" "003" "NM_017566.3" "" "NP_060036.2" "" "" "" "-102" "1828" "1563" "87799598" "87741418" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00050549" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00265339" "" "" "" "2" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6PatIV1" "00394128" "" "" "" "3" "" "00006" "{PMID:Al-Deri 2021:32843486}" "2-generation family, 3 affected sibs, unaffected heterozygous carrier parents/relatives" "F" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatII2" "00394129" "" "" "00394128" "1" "" "00006" "{PMID:Al-Deri 2021:32843486}" "sister" "F" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatII3" "00394130" "" "" "00394128" "1" "" "00006" "{PMID:Al-Deri 2021:32843486}" "brother" "M" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatII4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050549" "00198" "00265339" "00139" "00394128" "00198" "00394129" "00198" "00394130" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198 ## 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}}" "0000037161" "00198" "00050549" "00006" "Isolated (sporadic)" "" "hypertelorism, depressed nasal bridge, generalized hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000203136" "00139" "00265339" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; no self-injury/hand-biting; bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000287334" "00198" "00394128" "00006" "Familial, autosomal recessive" "38y" "unremarkable prenatal/perinatal development; 12m-developmental delay; no illness provoked regression; 12m-sit independently, never crawled, 2y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures" "00y12m" "" "developmental delay" "" "" "" "" "" "PEERB" "developmental delay" "" "0000287335" "00198" "00394129" "00006" "Familial, autosomal recessive" "36y" "unremarkable prenatal/perinatal development; 4m-developmental delay; no illness provoked regression; very mild motor delay, 15m-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures" "00y04m" "" "developmental delay" "" "" "" "" "" "PEERB" "developmental delay" "" "0000287336" "00198" "00394130" "00006" "Familial, autosomal recessive" "33y" "unremarkable prenatal/perinatal development; MRI brain 2y-normal; 6m-developmental delay; no illness provoked regression; 12m-sit, 18m-crawl, 2-3y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures" "00y06m" "" "developmental delay" "" "" "" "" "" "PEERB" "developmental 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}}" "0000050494" "00050549" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000266458" "00265339" "1" "03427" "03427" "2019-09-20 21:48:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000395376" "00394128" "1" "00006" "00006" "2021-11-30 16:42:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395377" "00394129" "1" "00006" "00006" "2021-11-30 16:42:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000395378" "00394130" "1" "00006" "00006" "2021-11-30 16:42:51" "" "" "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 = 10 "{{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}}" "0000079474" "0" "90" "16" "87319450" "88669353" "del" "0" "00006" "BANP_000002" "g.87319450_88669353del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000290404" "0" "50" "16" "87795633" "87795633" "subst" "0.000740741" "01943" "KLHDC4_000002" "g.87795633G>A" "" "" "" "KLHDC4(NM_017566.4):c.113C>T (p.A38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87762027G>A" "" "VUS" "" "0000290405" "0" "30" "16" "87743034" "87743034" "subst" "0" "01943" "KLHDC4_000001" "g.87743034C>G" "" "" "" "KLHDC4(NM_017566.4):c.1284G>C (p.G428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87709428C>G" "" "likely benign" "" "0000624802" "3" "30" "16" "87743027" "87743027" "subst" "1.22317E-5" "00006" "KLHDC4_000003" "g.87743027G>C" "" "{PMID:Dias 2019:31668703}" "" "" "variant segregating with clinical phenotype" "Germline" "yes" "" "0" "" "" "g.87709421G>C" "" "likely benign" "" "0000826644" "3" "10" "16" "87742977" "87742977" "subst" "0.00503945" "00006" "KLHDC4_000004" "g.87742977A>G" "" "{PMID:Al-Deri 2021:32843486}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000826732" "3" "10" "16" "87742977" "87742977" "subst" "0.00503945" "00006" "KLHDC4_000004" "g.87742977A>G" "" "{PMID:Al-Deri 2021:32843486}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000826735" "3" "10" "16" "87742977" "87742977" "subst" "0.00503945" "00006" "KLHDC4_000004" "g.87742977A>G" "" "{PMID:Al-Deri 2021:32843486}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0001002652" "0" "30" "16" "87730254" "87730254" "subst" "1.21931E-5" "01804" "KLHDC4_000005" "g.87730254C>A" "" "" "" "JPH3(NM_020655.3):c.2235C>A (p.(Asn745Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041414" "0" "50" "16" "87743121" "87743121" "subst" "2.04653E-5" "01804" "KLHDC4_000006" "g.87743121C>T" "" "" "" "KLHDC4(NM_017566.4):c.1197G>A (p.(Lys399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041415" "0" "50" "16" "87788825" "87788825" "subst" "3.65503E-5" "02325" "KLHDC4_000007" "g.87788825G>C" "" "" "" "KLHDC4(NM_017566.4):c.344C>G (p.P115R)" "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 KLHDC4 ## Count = 10 "{{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}}" "0000079474" "00010660" "00" "-869857" "0" "423796" "0" "c.-869857_*422233del" "r.0?" "p.0?" "" "0000290404" "00010660" "50" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Ala38Val)" "" "0000290405" "00010660" "30" "1284" "0" "1284" "0" "c.1284G>C" "r.(?)" "p.(Gly428=)" "" "0000624802" "00010660" "30" "1291" "0" "1291" "0" "c.1291C>G" "r.(?)" "p.(Pro431Ala)" "" "0000826644" "00010660" "10" "1341" "0" "1341" "0" "c.1341T>C" "r.(=)" "p.(=)" "" "0000826732" "00010660" "10" "1341" "0" "1341" "0" "c.1341T>C" "r.(=)" "p.(=)" "" "0000826735" "00010660" "10" "1341" "0" "1341" "0" "c.1341T>C" "r.(=)" "p.(=)" "" "0001002652" "00010660" "30" "12992" "0" "12992" "0" "c.*11429G>T" "r.(=)" "p.(=)" "" "0001041414" "00010660" "50" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(=)" "" "0001041415" "00010660" "50" "344" "0" "344" "0" "c.344C>G" "r.(?)" "p.(Pro115Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050494" "0000079474" "0000266458" "0000624802" "0000395376" "0000826644" "0000395377" "0000826732" "0000395378" "0000826735"