### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C12orf4) # 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}}" "C12orf4" "chromosome 12 open reading frame 4" "12" "p13.3" "unknown" "NG_051648.1" "UD_136085950416" "" "https://www.LOVD.nl/C12orf4" "" "1" "1184" "57102" "616082" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-23 20:02:02" "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}}" "00003982" "C12orf4" "chromosome 12 open reading frame 4" "001" "NM_020374.2" "" "NP_065107.1" "" "" "" "-88" "3731" "1659" "4647637" "4596901" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "06192" "MRT66" "Mental retardation, autosomal recessive 66" "AR" "618221" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "C12orf4" "06192" ## 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}}" "00144512" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00144513" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00225686" "" "" "" "3" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam09DG00102" "00301701" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "yes" "" "" "0" "" "" "" "15DG2605" "00361499" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "09DG00100" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00144512" "00198" "00144513" "00198" "00225686" "00198" "00301701" "00198" "00361499" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 06192 ## 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}}" "0000117250" "00198" "00144512" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000117251" "00198" "00144513" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000170792" "00198" "00225686" "00006" "Familial, autosomal recessive" "" "see paper; …, global developmental delay" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000228799" "00198" "00301701" "00006" "Familial, autosomal recessive" "2y4m" "pregnancy was complicated by threatened abortion in the first trimester but later progressed uneventfully. Delivery was by emergency C/S due to cephalopelvic disproportion and prior C/S. He had no perinatal complications, was discharged in good condition, and had unremarkable neonatal life. His parents got concerned about his floppiness and development following an episode of diarrhea at the age of 3 months, which has shortly been followed by chest infection requiring admission. After another episode of chest infection at 9 months, he was admitted for further investigation and was found to have GERD. He was evaluated for hypotonia and muscle biopsy was done, revealing non-specific changes. Review of systems was unremarkable, there was no history of seizures and developmental history revealed that sitting was attained at 28 months, and he could say less than 10 words. Parents are first cousins and his older brother is normal. There is history of three cousins suspected to have intellectual disability or autism. Examination showed no dysmorphic features apart from mild epicanthus. Weight was 12.1 kg (slightly below 25th centile), length 86 cm (5-10th centile), and head circumference 49 cm (slightly below the 50th centile). There was hypotonia associated with hypoactive deep tendon reflexes. CT brain was normal" "" "" "" "" "" "" "" "" "" "" "" "0000256904" "00139" "00361499" "00006" "Familial, autosomal recessive" "7y" "not syndromic; intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## 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}}" "0000145369" "00144512" "0" "01807" "01807" "2017-12-15 14:21:21" "" "" "SEQ" "DNA" "" "" "0000145370" "00144513" "0" "01807" "01807" "2017-12-15 14:21:22" "" "" "SEQ" "DNA" "" "" "0000226753" "00225686" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000302825" "00301701" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000362727" "00361499" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000226753" "C12orf4" "0000302825" "C12orf4" "0000362727" "C12orf4" ## 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 = 11 "{{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}}" "0000236482" "3" "90" "12" "4626257" "4626257" "subst" "0" "01807" "C12orf4_000001" "g.4626257G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.4517091G>A" "" "pathogenic" "" "0000236483" "3" "90" "12" "4626257" "4626257" "subst" "0" "01807" "C12orf4_000001" "g.4626257G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.4517091G>A" "" "pathogenic" "" "0000459758" "3" "70" "12" "4634510" "4634511" "ins" "0" "00006" "C12orf4_000003" "g.4634510_4634511insGTTT" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "637_638insAAAC" "" "Germline" "yes" "" "0" "" "" "g.4525344_4525345insGTTT" "" "likely pathogenic (recessive)" "" "0000548129" "0" "30" "12" "4609378" "4609378" "subst" "2.03198E-5" "01804" "C12orf4_000004" "g.4609378T>C" "" "" "" "C12orf4(NM_020374.2):c.1366A>G (p.(Ile456Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4500212T>C" "" "likely benign" "" "0000548130" "0" "90" "12" "4609442" "4609442" "dup" "0" "01943" "C12orf4_000005" "g.4609442dup" "" "" "" "C12orf4(NM_020374.3):c.1303dupG (p.D435Gfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4500276dup" "" "pathogenic" "" "0000548142" "0" "30" "12" "4626311" "4626311" "subst" "0" "01804" "C12orf4_000006" "g.4626311G>C" "" "" "" "C12orf4(NM_020374.2):c.1078C>G (p.(Arg360Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4517145G>C" "" "likely benign" "" "0000666182" "3" "70" "12" "4599687" "4599687" "subst" "0" "00006" "C12orf4_000007" "g.4599687C>A" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.4490521C>A" "" "likely pathogenic (recessive)" "ACMG" "0000763101" "3" "90" "12" "4634508" "4634511" "dup" "0" "00006" "C12orf4_000008" "g.4634508_4634511dup" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.4525342_4525345dup" "" "pathogenic" "" "0001000004" "0" "90" "12" "4609442" "4609442" "dup" "0" "02327" "C12orf4_000005" "g.4609442dup" "" "" "" "C12orf4(NM_020374.3):c.1303dupG (p.D435Gfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001054208" "0" "50" "12" "4628048" "4628048" "subst" "0" "01804" "C12orf4_000009" "g.4628048T>A" "" "" "" "C12orf4(NM_020374.4):c.729-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054209" "0" "70" "12" "4639040" "4639041" "del" "0" "01804" "C12orf4_000010" "g.4639040_4639041del" "" "" "" "C12orf4(NM_020374.4):c.505_506del (p.(Arg169Thrfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 C12orf4 ## Count = 11 "{{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}}" "0000236482" "00003982" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "" "0000236483" "00003982" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "" "0000459758" "00003982" "70" "639" "0" "640" "0" "c.639_640insACAA" "r.(?)" "p.(Gln214Thrfs*31)" "" "0000548129" "00003982" "30" "1366" "0" "1366" "0" "c.1366A>G" "r.(?)" "p.(Ile456Val)" "" "0000548130" "00003982" "90" "1303" "0" "1303" "0" "c.1303dup" "r.(?)" "p.(Asp435GlyfsTer2)" "" "0000548142" "00003982" "30" "1078" "0" "1078" "0" "c.1078C>G" "r.(?)" "p.(Arg360Gly)" "" "0000666182" "00003982" "70" "1566" "1" "1566" "1" "c.1566+1G>T" "r.spl" "p.?" "" "0000763101" "00003982" "90" "639" "0" "642" "0" "c.639_642dup" "r.(?)" "p.(Ser215Thrfs*30)" "" "0001000004" "00003982" "90" "1303" "0" "1303" "0" "c.1303dup" "r.(?)" "p.(Asp435GlyfsTer2)" "" "0001054208" "00003982" "50" "729" "-2" "729" "-2" "c.729-2A>T" "r.spl?" "p.?" "" "0001054209" "00003982" "70" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Arg169Thrfs*4)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000145369" "0000236482" "0000145370" "0000236483" "0000226753" "0000459758" "0000302825" "0000666182" "0000362727" "0000763101"