### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C12orf66)
# 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}}"
"C12orf66" "chromosome 12 open reading frame 66" "12" "q14.2" "unknown" "NC_000012.11" "UD_132319647551" "" "http://www.LOVD.nl/KICS2" "" "1" "26517" "144577" "617420" "1" "1" "1" "1" "Alias C12orf66.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C12orf66 to KICS2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-23 10:38:18" "00006" "2025-01-24 19:20:40"
## 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}}"
"00004005" "C12orf66" "chromosome 12 open reading frame 66" "001" "NM_152440.4" "" "NP_689653.3" "" "" "" "-59" "2541" "1338" "64616076" "64586419" "" "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"
"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}}"
"C12orf66" "00139"
## Individuals ## Do not remove or alter this header ##
## Count = 11
"{{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}}"
"00460356" "" "" "" "1" "" "00006" "{PMID:Buchert 2025:39824192}" "2-generation family, 1 affected, unaffected heterozygous carrier 1st cousin parents" "M" "yes" "" "" "0" "" "" "" "FamAPatII1"
"00460357" "" "" "" "2" "" "00006" "{PMID:Buchert 2025:39824192}" "2-generation family, 2 affected, unaffected heterozygous carrier 1st cousin parents" "M" "yes" "" "" "0" "" "" "" "FamBPatII2"
"00460358" "" "" "00460357" "1" "" "00006" "{PMID:Buchert 2025:39824192}" "brother" "M" "yes" "" "" "0" "" "" "" "FamBPatII4"
"00460359" "" "" "" "2" "" "00006" "{PMID:Buchert 2025:39824192}" "2-generation family, 2 affected, unaffected heterozygous carrier 1st cousin parents" "F" "yes" "Turkey" "" "0" "" "" "Kurdistan" "FamCPatII1"
"00460360" "" "" "00460359" "1" "" "00006" "{PMID:Buchert 2025:39824192}" "brother" "M" "yes" "Turkey" "" "0" "" "" "Kurdistan" "FamCPatII3"
"00460361" "" "" "" "1" "" "00006" "{PMID:Buchert 2025:39824192}" "2-generation family, 1 affected, unaffected heterozygous carrier 1st cousin parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamDPatII3"
"00460362" "" "" "" "1" "" "00006" "{PMID:Buchert 2025:39824192}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "FamEPatII1"
"00460363" "" "" "" "1" "" "00006" "{PMID:Buchert 2025:39824192}" "2-generation family, 1 affected, unaffected heterozygous carrier cousin parents" "M" "yes" "" "" "0" "" "" "" "FamFPatII1"
"00460364" "" "" "" "2" "" "00006" "{PMID:Buchert 2025:39824192}" "family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamGPatII2"
"00460365" "" "" "00460364" "1" "" "00006" "{PMID:Buchert 2025:39824192}" "brother" "M" "" "" "" "0" "" "" "" "FamGPatII3"
"00460366" "" "" "" "1" "" "00006" "{PMID:Buchert 2025:39824192}" "2-generation family, 1 affected, unaffected heterozygous carrier cousin parents" "F" "yes" "" "" "0" "" "" "" "FamHPatII1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}" "{{diseaseid}}"
"00460356" "05611"
"00460357" "05611"
"00460358" "05611"
"00460359" "05611"
"00460360" "05611"
"00460361" "05611"
"00460362" "05611"
"00460363" "05611"
"00460364" "05611"
"00460365" "05611"
"00460366" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 05611
## Count = 11
"{{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}}"
"0000348084" "05611" "00460356" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., birth weight 3,200g (-1.25), length 51cm (-0.66); height 183cm (+1.77), weight 81kg (+1.75), OFC 63cm (+5.4); 1y5-walk; normal speech; normal comprehension; no regression; mild Intellectual disability; 6m-seizures (cyanotic autonomic focal seizures and rare tonic-clonic); MRI normal; hypotonia; no hypertonia; no movement disorder; no stereotypies; no behavioral anomalies; normal sleep; hypertelorism; normal hearing; normal vision; cannot run; sialorrhea; fast fatiguability" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348085" "05611" "00460357" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., birth weight 1,400g (-4.69); height 168cm (-0.44), OFC 54cm (-0.74); 2y-walk; speech delay; delayed comprehension; no regression; moderate Intellectual disability; seizures; normal sleep; short, deep philtrum; mild bilateral hearing impairment; normal vision; hemophilia type VIII; simple incomplete syndactyly" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348086" "05611" "00460358" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., birth weight 2,500g (-2.38); height 128cm (-1.64), OFC 54cm (+0.84); 2y-walk; no speech; very limited comprehension; no regression; severe Intellectual disability; seizures; normal sleep; short, deep philtrum; normal hearing; normal vision; 2y6m-aortic stenosis" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348087" "05611" "00460359" "00006" "Familial, autosomal recessive" "16y10m" "see paper; ..., birth weight 1,320g (P44; -0.15), length 41cm (+0.38), OFC 28cm (0); 13y-height 147cm (-1.94), weight 31.8kg (-2.77), OFC 55cm (+0.68); walking with assistance at the age of 16 y; no speech; severe Intellectual disability; 6m-seizures; MRI unspecific gliosis in right frontal semioval center; hand washing movements; repetitive head circling, fingernail biting; laughing fits; difficulty sleeping through night; discrete synophrys, short, broad nose with broad nasal bridge, low-hanging columella, short, deep philtrum, high and narrow palate; strabismus convergens; hypopigmented maculae covering entire integument; Langerhans cell histiocytosis as newborn; episodes of near-daily vomiting" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348088" "05611" "00460360" "00006" "Familial, autosomal recessive" "7y7m" "see paper; ..., birth weight normal, length normal; 1y11m-walk; speech babbling; Intellectual disability; no; difficulties to fall asleep; broad nose with broad nasal bridge, rather deep philtrum, low-hanging columella; perinatal asphyxia" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348089" "05611" "00460361" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., birth weight 2,600g (-2.23); weight 35kg (+2.42); 3y-walk; speech 8-10 words; regression; moderate Intellectual disability; yes (focal mainly, sometimes bilateral tonic clonic and rarely myoclonic jerks); MRI few T2W hyperintensities in the periventricular white matter predominantly in the parieto-occipital regions; hypotonia; no hypertonia; movement disorder; autism, attention-deficient hyperactive disorder, aggression; normal hearing; normal vision" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348090" "05611" "00460362" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., birth weight 2,236g (-2.39); height 97cm (-0.89), weight 13.8kg (-1.71), OFC 52cm (+1.56); 2y-walk; speech delay; delayed comprehension; no regression; moderate Intellectual disability; febrile; MRI non-specific white matter gliosis in the parietal and frontal regions; hypotonia; no hypertonia; no movement disorder; normal hearing; normal vision" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348091" "05611" "00460363" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., relative macrocephaly; verbal dyspraxia; Intellectual disability; seizures (tonic posturing, myoclonic jerks); no hypotonia; no hypertonia; no movement disorder; self-destructive behaviors; normal hearing; normal vision" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348092" "05611" "00460364" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., intellectual disability; no seizures; dystonia; conductive hearing impairment" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348093" "05611" "00460365" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., intellectual disability; no seizures; dystonia; conductive hearing impairment" "" "" "" "" "" "" "" "" "intellectual disability"
"0000348094" "05611" "00460366" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., birth weight 2,390g (-2.34), length 45cm (-2.62), OFC 32cm (-2.50); height 144cm (-1.61), weight 37kg (-1.04), OFC 55.3cm (+1.24); 18m-walk; speech simple combination of words; very limited comprehension; no regression; moderate Intellectual disability; 6y-seizures (generalized tonic-clonic); MRI normal; hypotonia; no hypertonia; no movement disorder; stereotypies; attention-deficient hyperactive disorder; impaired sleep; short nose with anteverted nares, prominent forehead with depressed nasal bridge; normal hearing; hyperopia; clinodactyly 5th fingers bilaterally" "" "" "" "" "" "" "" "" "intellectual disability"
## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000461989" "00460356" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000461990" "00460357" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000461991" "00460358" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000461992" "00460359" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000461993" "00460360" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000461994" "00460361" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000461995" "00460362" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000461996" "00460363" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000461997" "00460364" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000461998" "00460365" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000461999" "00460366" "1" "00006" "00006" "2025-01-24 19:20:35" "" "" "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 = 12
"{{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}}"
"0001021371" "3" "90" "12" "64616011" "64616011" "subst" "0" "00006" "C12orf66_000007" "g.64616011C>A" "" "{PMID:Buchert 2025:39824192}" "" "" "" "Germline" "" "" "0" "" "" "g.64222231C>A" "" "pathogenic (recessive)" ""
"0001021372" "3" "90" "12" "64609745" "64609745" "del" "4.16081E-6" "00006" "C12orf66_000006" "g.64609745del" "" "{PMID:Buchert 2025:39824192}" "" "236-2delA" "" "Germline" "" "" "0" "" "" "g.64215965del" "" "pathogenic (recessive)" ""
"0001021373" "3" "90" "12" "64609745" "64609745" "del" "4.16081E-6" "00006" "C12orf66_000006" "g.64609745del" "" "{PMID:Buchert 2025:39824192}" "" "236-2delA" "" "Germline" "" "" "0" "" "" "g.64215965del" "" "pathogenic (recessive)" ""
"0001021374" "3" "90" "12" "64609745" "64609745" "del" "4.16081E-6" "00006" "C12orf66_000006" "g.64609745del" "" "{PMID:Buchert 2025:39824192}" "" "236-2delA" "" "Germline" "" "" "0" "" "" "g.64215965del" "" "pathogenic (recessive)" ""
"0001021375" "3" "90" "12" "64609745" "64609745" "del" "4.16081E-6" "00006" "C12orf66_000006" "g.64609745del" "" "{PMID:Buchert 2025:39824192}" "" "236-2delA" "" "Germline" "" "" "0" "" "" "g.64215965del" "" "pathogenic (recessive)" ""
"0001021376" "3" "90" "12" "64588182" "64588182" "del" "0" "00006" "C12orf66_000005" "g.64588182del" "" "{PMID:Buchert 2025:39824192}" "" "" "" "Germline" "" "" "0" "" "" "g.64194402del" "" "pathogenic (recessive)" ""
"0001021377" "11" "90" "12" "64588176" "64588176" "subst" "0" "00006" "C12orf66_000004" "g.64588176T>A" "" "{PMID:Buchert 2025:39824192}" "" "" "" "Germline" "" "" "0" "" "" "g.64194396T>A" "" "pathogenic (recessive)" ""
"0001021378" "3" "90" "12" "64588072" "64588072" "subst" "0" "00006" "C12orf66_000003" "g.64588072G>T" "" "{PMID:Buchert 2025:39824192}" "" "" "" "Germline" "" "" "0" "" "" "g.64194292G>T" "" "pathogenic (recessive)" ""
"0001021379" "3" "90" "12" "64587782" "64587782" "subst" "0" "00006" "C12orf66_000002" "g.64587782T>C" "" "{PMID:Buchert 2025:39824192}" "" "" "" "Germline" "" "" "0" "" "" "g.64194002T>C" "" "pathogenic (recessive)" ""
"0001021380" "3" "90" "12" "64587782" "64587782" "subst" "0" "00006" "C12orf66_000002" "g.64587782T>C" "" "{PMID:Buchert 2025:39824192}" "" "" "" "Germline" "" "" "0" "" "" "g.64194002T>C" "" "pathogenic (recessive)" ""
"0001021381" "3" "90" "12" "64587782" "64587782" "subst" "0" "00006" "C12orf66_000002" "g.64587782T>C" "" "{PMID:Buchert 2025:39824192}" "" "" "" "Germline" "" "" "0" "" "" "g.64194002T>C" "" "pathogenic (recessive)" ""
"0001021382" "21" "90" "12" "63866348" "64995425" "del" "0" "00006" "C12orf66_000001" "g.63866348_64995425del" "" "{PMID:Buchert 2025:39824192}" "" "1.1Mb deletion" "" "Germline" "" "" "0" "" "" "g.63472568_64601645del" "" "pathogenic (recessive)" ""
## 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 C12orf66
## Count = 12
"{{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}}"
"0001021371" "00004005" "90" "7" "0" "7" "0" "c.7G>T" "r.(?)" "p.(Glu3Ter)" ""
"0001021372" "00004005" "90" "236" "-2" "236" "-2" "c.236-2del" "r.236_243del" "p.Gly79ValfsTer18" "1i"
"0001021373" "00004005" "90" "236" "-2" "236" "-2" "c.236-2del" "r.236_243del" "p.Gly79ValfsTer18" "1i"
"0001021374" "00004005" "90" "236" "-2" "236" "-2" "c.236-2del" "r.236_243del" "p.Gly79ValfsTer18" "1i"
"0001021375" "00004005" "90" "236" "-2" "236" "-2" "c.236-2del" "r.236_243del" "p.Gly79ValfsTer18" "1i"
"0001021376" "00004005" "90" "780" "0" "780" "0" "c.780del" "r.(?)" "p.(Lys260AsnfsTer18)" ""
"0001021377" "00004005" "90" "784" "0" "784" "0" "c.784A>T" "r.(?)" "p.(Lys262Ter)" ""
"0001021378" "00004005" "90" "888" "0" "888" "0" "c.888C>A" "r.(?)" "p.(Asp296Glu)" ""
"0001021379" "00004005" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Tyr393Cys)" ""
"0001021380" "00004005" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Tyr393Cys)" ""
"0001021381" "00004005" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Tyr393Cys)" ""
"0001021382" "00004005" "90" "" "0" "" "0" "c.-379408_*721274del" "r.0?" "p.0" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{variantid}}"
"0000461989" "0001021371"
"0000461990" "0001021372"
"0000461991" "0001021373"
"0000461992" "0001021374"
"0000461993" "0001021375"
"0000461994" "0001021376"
"0000461995" "0001021377"
"0000461995" "0001021382"
"0000461996" "0001021378"
"0000461997" "0001021379"
"0000461998" "0001021380"
"0000461999" "0001021381"