### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERI1) # 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}}" "ERI1" "exoribonuclease 1" "8" "p23.1" "unknown" "NC_000008.10" "UD_133490787496" "" "https://www.LOVD.nl/ERI1" "" "1" "23994" "90459" "608739" "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/ERI1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-10 21:35:16" "00006" "2023-08-10 22:22:57" ## 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}}" "00007221" "ERI1" "exoribonuclease 1" "001" "NM_153332.3" "" "NP_699163.2" "" "" "" "-260" "4355" "1050" "8860314" "8890849" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05346" "SEMD" "dysplasia, spondyloepimetaphyseal (SEMD)" "" "" "" "" "" "00006" "2017-11-17 14:28:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00436112" "" "" "" "2" "" "00006" "{PMID:Guo 2023:37352860}" "2-generation family, affected sister/brother, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "Fam1Pat1A" "00436113" "" "" "00436112" "1" "" "00006" "{PMID:Guo 2023:37352860}" "brother" "M" "no" "" "" "0" "" "" "" "Fam1Pat1B" "00436114" "" "" "" "1" "" "00006" "{PMID:Guo 2023:37352860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "3m15d" "0" "" "" "" "FamPat2" "00436115" "" "" "" "1" "" "00006" "{PMID:Guo 2023:37352860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "3m15d" "0" "" "" "" "FamPat3" "00436116" "" "" "" "1" "" "00006" "{PMID:Guo 2023:37352860}" "2-generation family, 1 affected" "M" "no" "" "2y" "0" "" "" "" "FamPat4" "00436117" "" "" "" "1" "" "00006" "{PMID:Szot 2021:33942433}, {PMID:Guo 2023:37352860}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "F5;FamPat5" "00436118" "" "" "" "1" "" "00006" "{PMID:Guo 2023:37352860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "" "" "0" "" "" "" "FamPat6" "00436119" "" "" "" "1" "" "00006" "{PMID:Guo 2023:37352860}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "" "" "0" "" "" "" "FamPat7" "00436120" "" "" "" "1" "" "00006" "{PMID:Hoxha 2023:36208065}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "patient" "00436121" "" "" "" "1" "" "00006" "{PMID:Choucair 2017:28488351}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00436112" "05346" "00436113" "05346" "00436114" "05346" "00436115" "05346" "00436116" "05346" "00436117" "00198" "00436118" "00198" "00436119" "00198" "00436120" "00198" "00436121" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05346 ## Count = 10 "{{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}}" "0000326296" "05346" "00436112" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., fetal ultrasound hydronephrosis, birth at term; weight 24kg (-5 SD), length 112cm (-8 SD); spine anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; hydronephrosis; no intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000326297" "05346" "00436113" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., fetal ultrasound hydronephrosis, birth at term; weight 26kg (-5 SD), length 128cm (-7 SD); spine anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; hydronephrosis; no intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000326298" "05346" "00436114" "00006" "Familial, autosomal recessive" "3m15d" "see paper; ..., 3m15d-died; fetal ultrasound short limbs, birth at term, weight 2180g (-3.2 SD), length 40cm (-5 SD); spine anomaly; metaphyseal anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000326299" "05346" "00436115" "00006" "Familial, autosomal recessive" "3m15d" "see paper; ..., 3m15d-died; birth at term, weight 2,000g (-3.3 SD), length 41.7cm (-4.3 SD); weight 3.3kg (- 4 SD), length 50.3cm (-5 SD); spine anomaly; metaphyseal anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; no hydronephrosis" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000326300" "05346" "00436116" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., 2y-died; fetal ultrasound severe intra-uterine growth retardation, birth premature; failure to thrive, short stature; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; hydronephrosis; delayed motor milestones and speech, generalized hypotonia" "" "" "" "" "" "" "" "" "" "spondyloepimetaphyseal dysplasia" "" "0000326301" "00198" "00436117" "00006" "Familial, autosomal recessive" "8y9m" "see paper; ..., fetal ultrasound unremarkable, birth at term, weight 2,760g, length 50cm at 6 weeks (-2.1 SD); weight 22kg (8th centile), length 130.8cm (46th centile); no spine anomaly; no metaphyseal anomaly; no epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; no hydronephrosis; global developmental delay, autism" "" "" "" "" "" "" "" "" "" "intellectual disability, digital anomalies" "" "0000326302" "00198" "00436118" "00006" "Familial, autosomal recessive" "13y3m" "see paper; ..., fetal ultrasound unremarkable, birth at term, weight 2,810g (-1.6 SD), length 49cm (-1.3 SD); weight 62kg (85th centile), length 155cm (25th centile); no spine anomaly; no metaphyseal anomaly; no epiphyseal anomaly; no syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; no hydronephrosis; mntellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability, digital anomalies" "" "0000326303" "00198" "00436119" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., fetal ultrasound unremarkable, birth at term, weight 2,600g (-2 SD), length normal; weight 27.6kg (50th centile), length 130cm (90th centile); no spine anomaly; no metaphyseal anomaly; epiphyseal anomaly wrists; syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; hydronephrosis; mntellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability, digital anomalies" "" "0000326304" "00198" "00436120" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., fetal ultrasound unremarkable, birth at term, weight 4,010g (91st centile), length 49.5cm (43rd centile); weight normal, length normal; no spine anomaly; no metaphyseal anomaly; no epiphyseal anomaly; no syndactyly; brachydactyly/clinodactyly/camptodactyly; no cardiac anomaly; intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "intellectual disability, digital anomalies" "" "0000326305" "00198" "00436121" "00006" "Familial, autosomal recessive" "5y6m" "see paper; ..., fetal ultrasound unremarkable, birth at term, weight 3,000g (50th centile), length 50cm (-1.3 SD); length 105cm (<3rd centile); no spine anomaly; no metaphyseal anomaly; no epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; no hydronephrosis; intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "intellectual disability, digital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000437593" "00436112" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437594" "00436113" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437595" "00436114" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437596" "00436115" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437597" "00436116" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437598" "00436117" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437599" "00436118" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437600" "00436119" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437601" "00436120" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437602" "00436121" "1" "00006" "00006" "2023-08-10 22:14:44" "" "" "arrayCGH" "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 = 16 "{{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}}" "0000332012" "0" "30" "8" "8869213" "8869213" "subst" "0" "01804" "ERI1_000001" "g.8869213A>C" "" "" "" "ERI1(NM_153332.3):c.449A>C (p.(Glu150Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9011703A>C" "" "likely benign" "" "0000932896" "21" "90" "8" "8869214" "8869214" "subst" "0" "00006" "ERI1_000006" "g.8869214A>T" "" "{PMID:Guo 2023:37352860}" "" "yes" "" "Germline" "" "" "0" "" "" "g.9011704A>T" "" "pathogenic (recessive)" "" "0000932897" "21" "90" "8" "8869214" "8869214" "subst" "0" "00006" "ERI1_000006" "g.8869214A>T" "" "{PMID:Guo 2023:37352860}" "" "yes" "" "Germline" "" "" "0" "" "" "g.9011704A>T" "" "pathogenic (recessive)" "" "0000932898" "21" "90" "8" "8869228" "8869228" "subst" "8.21133E-6" "00006" "ERI1_000007" "g.8869228C>T" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9011718C>T" "" "pathogenic (recessive)" "" "0000932899" "11" "90" "8" "8869165" "8869165" "subst" "0" "00006" "ERI1_000005" "g.8869165A>G" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9011655A>G" "" "pathogenic (recessive)" "" "0000932900" "1" "90" "8" "8869228" "8869228" "subst" "8.21133E-6" "00006" "ERI1_000007" "g.8869228C>T" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9011718C>T" "" "pathogenic (recessive)" "" "0000932901" "3" "90" "8" "8873847" "8873847" "subst" "0" "00006" "ERI1_000008" "g.8873847C>T" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9016337C>T" "" "pathogenic (recessive)" "" "0000932902" "3" "90" "8" "8877897" "8877897" "subst" "0" "00006" "ERI1_000010" "g.8877897C>T" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9020387C>T" "" "pathogenic (recessive)" "" "0000932903" "3" "90" "8" "8873916" "8873916" "subst" "0" "00006" "ERI1_000009" "g.8873916G>A" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9016406G>A" "" "pathogenic (recessive)" "" "0000932904" "3" "90" "8" "8869116" "8869116" "subst" "0" "00006" "ERI1_000004" "g.8869116A>T" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9011606A>T" "" "pathogenic (recessive)" "" "0000932905" "3" "90" "8" "8641397" "8926088" "del" "0" "00006" "ERI1_000002" "g.(?_8641397)_(8926088_?)del" "" "{PMID:Hoxha 2023:36208065}" "" "" "" "Germline" "" "" "0" "" "" "g.(?_8783887)_(9068578_?)del" "" "pathogenic (recessive)" "" "0000932906" "10" "90" "8" "8887387" "8887387" "subst" "4.06567E-6" "00006" "ERI1_000011" "g.8887387A>G" "" "{PMID:Guo 2023:37352860}" "" "yes" "" "Germline" "" "" "0" "" "" "g.9029877A>G" "" "pathogenic (recessive)" "" "0000932907" "10" "90" "8" "8887387" "8887387" "subst" "4.06567E-6" "00006" "ERI1_000011" "g.8887387A>G" "" "{PMID:Guo 2023:37352860}" "" "yes" "" "Germline" "" "" "0" "" "" "g.9029877A>G" "" "pathogenic (recessive)" "" "0000932908" "11" "90" "8" "8887387" "8887387" "subst" "0" "00006" "ERI1_000012" "g.8887387A>C" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9029877A>C" "" "pathogenic (recessive)" "" "0000932909" "21" "90" "8" "8887389" "8887389" "subst" "0" "00006" "ERI1_000013" "g.8887389T>C" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9029879T>C" "" "pathogenic (recessive)" "" "0000932910" "2" "90" "8" "8860635" "8860635" "subst" "0" "00006" "ERI1_000003" "g.8860635C>A" "" "{PMID:Guo 2023:37352860}" "" "" "" "Germline" "" "" "0" "" "" "g.9003125C>A" "" "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 ERI1 ## Count = 16 "{{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}}" "0000332012" "00007221" "30" "449" "0" "449" "0" "c.449A>C" "r.(?)" "p.(Glu150Ala)" "" "0000932896" "00007221" "90" "450" "0" "450" "0" "c.450A>T" "r.(?)" "p.(Glu150Asp)" "" "0000932897" "00007221" "90" "450" "0" "450" "0" "c.450A>T" "r.(?)" "p.(Glu150Asp)" "" "0000932898" "00007221" "90" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Pro155Leu)" "" "0000932899" "00007221" "90" "401" "0" "401" "0" "c.401A>G" "r.(?)" "p.(Asp134Gly)" "" "0000932900" "00007221" "90" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Pro155Leu)" "" "0000932901" "00007221" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Gln172Ter)" "" "0000932902" "00007221" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Gln244Ter)" "" "0000932903" "00007221" "90" "582" "1" "582" "1" "c.582+1G>A" "r.spl" "p.?" "" "0000932904" "00007221" "90" "352" "0" "352" "0" "c.352A>T" "r.(?)" "p.(Lys118Ter)" "" "0000932905" "00007221" "90" "0" "0" "0" "0" "c.-260_*3305{0}" "r.0" "p.0" "_1_7_" "0000932906" "00007221" "90" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Asp298Gly)" "" "0000932907" "00007221" "90" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Asp298Gly)" "" "0000932908" "00007221" "90" "893" "0" "893" "0" "c.893A>C" "r.(?)" "p.(Asp298Ala)" "" "0000932909" "00007221" "90" "895" "0" "895" "0" "c.895T>C" "r.(?)" "p.(Ser299Pro)" "" "0000932910" "00007221" "90" "62" "0" "62" "0" "c.62C>A" "r.(?)" "p.(Ser21Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000437593" "0000932896" "0000437593" "0000932906" "0000437594" "0000932897" "0000437594" "0000932907" "0000437595" "0000932898" "0000437595" "0000932908" "0000437596" "0000932899" "0000437596" "0000932909" "0000437597" "0000932900" "0000437597" "0000932910" "0000437598" "0000932901" "0000437599" "0000932902" "0000437600" "0000932903" "0000437601" "0000932904" "0000437602" "0000932905"