### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIAA1324) # 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}}" "KIAA1324" "KIAA1324" "1" "p13.3" "unknown" "NC_000001.10" "UD_132319133982" "" "https://www.LOVD.nl/KIAA1324" "" "1" "29618" "57535" "611298" "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/KIAA1324_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-08 20:49:22" "00006" "2023-02-08 21:25:04" ## 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}}" "00025809" "KIAA1324" "transcript variant 1" "001" "NM_020775.4" "" "NP_065826.2" "" "" "" "-221" "6811" "3042" "109656585" "109749403" "00006" "2023-02-08 21:17:28" "" "" ## 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}}" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "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 = 0 ## 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}}" "00155229" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "29311637-Fam3" "00227835" "" "" "" "7" "" "00000" "" "4-generation family, 7 affecteds, unaffected heterozygous family members" "M" "yes" "Palestine" ">26y" "0" "" "" "" "" "00431330" "" "" "" "1" "" "00006" "{PMID:Morova 2021:33979636}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00155229" "00259" "00227835" "05400" "00431330" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00259, 05400, 05611 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000127757" "00259" "00155229" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity" "" "" "" "" "" "" "" "" "obesity" "0000171841" "05400" "00227835" "00000" "Familial, autosomal recessive" "" "severe/profound hearing loss; no hearing aid; no motor delay; no communicative delay; no cognitive impairment; no ventriculomegaly; corpus callosum short and thin; heterotopia moderate; frontal polymicrogyria moderate; cerebellar dysplasia; moderate interhemispheric cyst" "" "" "" "" "" "" "" "" "deafness, autosomal recessive, type 82 (DFNB-82)" "0000321930" "05611" "00431330" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., global development delay; intellectual disability; 18m-sit, 34m-walk; single words (4–5) at 34 months; no meaningful contact fter status epilepticus and resuscitation; neurologic features; hypotonia; muscle weakness; seizures; pyramidal signs after status epilepticus and resuscitation; no ataxia; MRI dilation frontal interhemispheric cleft; over-folded helices, large earlobes, pronounced antitragus; long eyelashes, down-slanting palpebral fissures; high arched narrow palate; flat nasal bridge, broad bulbous nasal tip, long philtrum; thin upper lip; pointy chin; early caries; skin abnormalities; dry skin, keratosis pilaris; hypertrichosis back; exotropia; no hypermetropia; vision loss after status epilepticus and resuscitation; gastro-intestinal abnormalities; swallowing difficulties after status epilepticus and resuscitation; early obesity; normal extremities; normal joints; normal hands/feet" "" "" "" "" "" "" "" "NEDHFS" "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}}" "0000156093" "00155229" "1" "00006" "00006" "2018-03-18 13:11:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000228924" "00227835" "1" "00000" "00115" "2010-08-16 11:43:49" "00008" "2019-03-12 17:52:18" "SEQ" "DNA" "" "" "0000432742" "00431330" "1" "00006" "00006" "2023-02-08 20:43:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000228924" "AKNAD1" "0000228924" "GPR61" "0000228924" "GPSM2" "0000228924" "KIAA1324" "0000228924" "MYBPHL" "0000228924" "SLC25A24" ## 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 = 3 "{{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}}" "0000357979" "3" "30" "1" "109734387" "109734387" "subst" "0" "00006" "KIAA1324_000002" "g.109734387A>C" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.109191765A>C" "" "likely benign" "" "0000469193" "3" "35" "1" "109704542" "109704542" "subst" "0.000630399" "00000" "KIAA1324_000001" "g.109704542G>A" "" "{PMID:Walsh 2010:20602914}" "" "A61A" "not in dbSNP or 6 control chromosomes; note protein should have been reported as A60A" "Germline" "" "" "0" "" "" "g.109161920G>A" "" "likely benign" "" "0000918326" "3" "90" "1" "109715109" "109737217" "del" "0" "00006" "KIAA1324_000003" "g.(109714636_109715109)_(109737217_109740095)del" "" "{PMID:Morova 2021:33979636}" "" "del ex5-15" "" "Germline" "" "" "0" "" "" "g.(109172014_109172487)_(109194595_109197473)del" "" "likely benign" "" ## 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 KIAA1324 ## Count = 3 "{{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}}" "0000357979" "00025809" "30" "1585" "0" "1585" "0" "c.1585A>C" "r.(?)" "p.(Lys529Gln)" "" "0000469193" "00025809" "30" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Ala61=)" "" "0000918326" "00025809" "90" "616" "-1" "2121" "1" "c.(615+1_616-1)_(2121+1_2122-1)del" "r.?" "p.?" "4i_15i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000156093" "0000357979" "0000228924" "0000469193" "0000432742" "0000918326"