### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA1432)
# 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}}"
"KIAA1432" "KIAA1432" "9" "p24.1" "unknown" "NC_000009.11" "UD_136020325429" "" "http://www.LOVD.nl/RIC1" "" "1" "17686" "57589" "610354" "1" "1" "1" "1" "NOTE: gene name changed from KIAA1432 to RIC1" "" "g" "https://databases.lovd.nl/shared/refseq/KIAA1432_codingDNA.html" "1" "" "NOTE: gene name changed from KIAA1432 to RIC1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:38:56" "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}}"
"00025788" "KIAA1432" "transcript variant 1" "002" "NM_020829.3" "" "NP_065880.2" "" "" "" "-191" "6583" "4272" "5629119" "5776557" "00006" "2022-12-23 09:52:44" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"
"00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33"
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
"06834" "CATIFA" "CATIFA syndrome" "AR" "618761" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
"06989" "cleft" "cleft lip with/without cleft palate" "" "" "" "" "" "00006" "2022-12-23 13:40:13" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"KIAA1432" "06834"
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00050559" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00415950" "" "" "" "1" "" "00006" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Pat2"
"00428168" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "RIC1-Pat1"
"00428169" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "RIC1-Pat2"
"00428170" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "RIC1-Pat3"
"00444932" "" "" "" "2" "" "00006" "{PMID:Patel 2017:27878435}" "5-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "" "" "" "" "0" "" "" "" "07DG-0035/10DG1320"
"00444983" "" "" "" "3" "" "00006" "{PMID:Patel 2017:27878435}" "4-generation family, 3 affected broothers, unaffected heterozygous parents/relatives" "M" "" "" "" "0" "" "" "" "15DG2427"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00050559" "00198"
"00415950" "05611"
"00428168" "06989"
"00428169" "06989"
"00428170" "06989"
"00444932" "00296"
"00444983" "00296"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 05611, 06834, 06989
## Count = 7
"{{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}}"
"0000037171" "00198" "00050559" "00006" "Unknown" "" "global developmental delay" "" "" "" "" "" "" "" "" "" "" ""
"0000307721" "05611" "00415950" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., severe neurodevelopmental dealy, delayed social/cognitive abilities; delayed sit, delayed walk; no speech; no epilepsy; MRI slightly thickened cortex, decreased white matter volume, ventriculomegaly, bilateral enlarged frontal gyri; microcephaly, micrognathia, low set ears; patent ductus arteriosus, resolved at 6m; recurrent pneumonia; no immunological anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
"0000319086" "06989" "00428168" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip and palate" ""
"0000319087" "06989" "00428169" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic cleft" ""
"0000319088" "06989" "00428170" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bilateral syndromic cleft lip and palate" ""
"0000334182" "00296" "00444932" "00006" "Familial, autosomal recessive" "" "pediatric posterior lenticonus cataract and global developmental delay; syndromic" "" "" "" "" "" "" "" "" "" "cataract" ""
"0000334233" "00296" "00444983" "00006" "Familial, autosomal recessive" "" "intellectual disability, cleft lip and palate, strabismus, brain atrophy; syndromic" "" "" "" "" "" "" "" "" "" "cataract" ""
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050504" "00050559" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000417230" "00415950" "1" "00006" "00006" "2022-08-19 10:38:34" "" "" "SEQ;SEQ-NG" "DNA" "" "wes"
"0000429579" "00428168" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" ""
"0000429580" "00428169" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" ""
"0000429581" "00428170" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" ""
"0000446501" "00444932" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000446552" "00444983" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "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 = 17
"{{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}}"
"0000079484" "0" "90" "9" "204104" "8198999" "del" "0" "00006" "GLDC_000111" "g.204104_8198999del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.204104_8198999del" "" "pathogenic" ""
"0000339092" "0" "50" "9" "5772921" "5772921" "subst" "4.11012E-6" "02327" "KIAA1432_000001" "g.5772921G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5772921G>A" "" "VUS" ""
"0000538321" "0" "30" "9" "5738565" "5738566" "del" "0" "01804" "KIAA1432_000002" "g.5738565_5738566del" "" "" "" "KIAA1432(NM_001135920.2):c.901+8_901+9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5738565_5738566del" "" "likely benign" ""
"0000678693" "0" "50" "9" "5713998" "5713998" "subst" "0" "01804" "KIAA1432_000004" "g.5713998C>G" "" "" "" "KIAA1432(NM_001135920.2):c.435C>G (p.(Ile145Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000678694" "0" "30" "9" "5762616" "5762616" "subst" "0.000134265" "01943" "KIAA1432_000005" "g.5762616C>A" "" "" "" "RIC1(NM_020829.4):c.2068C>A (p.Q690K, p.(Gln690Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000876841" "21" "70" "9" "5765523" "5765523" "subst" "0" "00006" "KIAA1432_000006" "g.5765523C>T" "" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "" "" "" "Germline" "" "" "0" "" "" "g.5765523C>T" "" "VUS" ""
"0000876842" "21" "70" "9" "5765523" "5765523" "subst" "0" "00006" "KIAA1432_000006" "g.5765523C>T" "" "{PMID:Fell 2022:35916241}, {DOI:Fell 2022:10.15252/emmm.202215829}" "" "" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "g.5765523C>T" "" "VUS" ""
"0000909161" "0" "70" "9" "5629119" "5656691" "del" "0" "00006" "KIAA1432_000007" "g.(5626033_5629119)_(5656691_5666690)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(5626033_5629119)_(5656691_5666690)del" "" "likely pathogenic" ""
"0000909162" "0" "70" "9" "5629119" "5656691" "del" "0" "00006" "KIAA1432_000007" "g.(5626033_5629119)_(5656691_5666690)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(5626033_5629119)_(5656691_5666690)del" "" "likely pathogenic" ""
"0000909163" "0" "70" "9" "5629119" "5656691" "del" "0" "00006" "KIAA1432_000007" "g.(5626033_5629119)_(5656691_5666690)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(5626033_5629119)_(5656691_5666690)del" "" "likely pathogenic" ""
"0000954845" "3" "70" "9" "5772741" "5772741" "subst" "0" "00006" "KIAA1432_000008" "g.5772741G>C" "" "{PMID:Patel 2017:27878435}" "" "" "variant in a novel candidate gene" "Germline" "yes" "" "0" "" "" "g.5772741G>C" "" "likely pathogenic (recessive)" ""
"0000954896" "3" "70" "9" "5772741" "5772741" "subst" "0" "00006" "KIAA1432_000008" "g.5772741G>C" "" "{PMID:Patel 2017:27878435}" "" "" "variant in a novel candidate gene" "Germline" "yes" "" "0" "" "" "g.5772741G>C" "" "likely pathogenic (recessive)" ""
"0000978739" "0" "50" "9" "5769034" "5769034" "subst" "0.000142469" "01804" "KIAA1432_000009" "g.5769034C>T" "" "" "" "RIC1(NM_020829.4):c.3202C>T (p.(Arg1068Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978740" "0" "50" "9" "5770093" "5770093" "subst" "0.000423816" "01804" "KIAA1432_000010" "g.5770093A>G" "" "" "" "RIC1(NM_020829.4):c.3431A>G (p.(Glu1144Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001053201" "0" "50" "9" "5762616" "5762616" "subst" "0.000134265" "01804" "KIAA1432_000005" "g.5762616C>A" "" "" "" "RIC1(NM_020829.4):c.2068C>A (p.Q690K, p.(Gln690Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001053202" "0" "50" "9" "5765465" "5765465" "subst" "2.44103E-5" "01804" "KIAA1432_000011" "g.5765465A>G" "" "" "" "RIC1(NM_020829.4):c.2893A>G (p.(Thr965Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001053203" "0" "30" "9" "5773954" "5773954" "subst" "0" "01804" "KIAA1432_000012" "g.5773954A>G" "" "" "" "RIC1(NM_020829.4):c.3984-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 KIAA1432
## Count = 17
"{{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}}"
"0000079484" "00025788" "90" "-5425206" "0" "2429025" "0" "c.-5425206_*2424753del" "r.0?" "p.0?" ""
"0000339092" "00025788" "50" "3824" "0" "3824" "0" "c.3824G>A" "r.(?)" "p.(Gly1275Glu)" ""
"0000538321" "00025788" "30" "901" "27" "901" "28" "c.901+27_901+28del" "r.(=)" "p.(=)" ""
"0000678693" "00025788" "50" "435" "0" "435" "0" "c.435C>G" "r.(?)" "p.(Ile145Met)" ""
"0000678694" "00025788" "30" "2068" "0" "2068" "0" "c.2068C>A" "r.(?)" "p.(Gln690Lys)" ""
"0000876841" "00025788" "70" "2951" "0" "2951" "0" "c.2951C>T" "r.(?)" "p.(Ala984Val)" ""
"0000876842" "00025788" "70" "2951" "0" "2951" "0" "c.2951C>T" "r.(?)" "p.(Ala984Val)" ""
"0000909161" "00025788" "70" "" "0" "" "0" "c-191_(252+1_252+10000){0}" "r.0?" "p.0?" ""
"0000909162" "00025788" "70" "" "0" "" "0" "c-191_(252+1_252+10000){0}" "r.0?" "p.0?" ""
"0000909163" "00025788" "70" "" "0" "" "0" "c-191_(252+1_252+10000){0}" "r.0?" "p.0?" ""
"0000954845" "00025788" "70" "3794" "0" "3794" "0" "c.3794G>C" "r.(?)" "p.(Arg1265Pro)" ""
"0000954896" "00025788" "70" "3794" "0" "3794" "0" "c.3794G>C" "r.(?)" "p.(Arg1265Pro)" ""
"0000978739" "00025788" "50" "3202" "0" "3202" "0" "c.3202C>T" "r.(?)" "p.(Arg1068Trp)" ""
"0000978740" "00025788" "50" "3431" "0" "3431" "0" "c.3431A>G" "r.(?)" "p.(Glu1144Gly)" ""
"0001053201" "00025788" "50" "2068" "0" "2068" "0" "c.2068C>A" "r.(?)" "p.(Gln690Lys)" ""
"0001053202" "00025788" "50" "2893" "0" "2893" "0" "c.2893A>G" "r.(?)" "p.(Thr965Ala)" ""
"0001053203" "00025788" "30" "3984" "-4" "3984" "-4" "c.3984-4A>G" "r.spl?" "p.?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}" "{{variantid}}"
"0000050504" "0000079484"
"0000417230" "0000876841"
"0000417230" "0000876842"
"0000429579" "0000909161"
"0000429580" "0000909162"
"0000429581" "0000909163"
"0000446501" "0000954845"
"0000446552" "0000954896"