### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPS23) # 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}}" "RPS23" "ribosomal protein S23" "5" "q14.1" "unknown" "NC_000005.9" "UD_136091407075" "" "https://www.LOVD.nl/RPS23" "RPS23 blogspot " "1" "10410" "6228" "603683" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RPS23_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-03 11:49:44" "00000" "2020-06-17 11:46:49" ## 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}}" "00018205" "RPS23" "ribosomal protein S23" "001" "NM_001025.4" "" "NP_001016.1" "" "" "" "-93" "3221" "432" "81574235" "81569139" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05337" "BTDD" "brachycephaly, trichomegaly, and developmental delay (BTDD, MacInnes syndrome (MCINS))" "AD" "617412" "" "" "" "00006" "2017-10-25 21:06:26" "00006" "2021-12-10 21:51:32" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RPS23" "05337" ## 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}}" "00060230" "" "" "" "1" "" "01558" "{DOI:Paolini 2017:10.1016/j.ajhg.2017.01.034}, {PMID:Alsop 2016:26982655}, {DOI:Alsop 2016:10.1371/journal.pone.0149619}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "Ind1" "00100509" "" "" "" "1" "" "00006" "{PMID:Paolini 2017:28257692}, {DOI:Paolini 2017:10.1016/j.ajhg.2017.01.034}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "28257692-Ind2" "00210925" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA199" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00060230" "00198" "00100509" "00198" "00210925" "05484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05337, 05484 ## Count = 3 "{{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}}" "0000078712" "00198" "00060230" "01558" "Isolated (sporadic)" "10y" "low nasal bridge, epicanthic folds, long eyelashes, blue sclerea; arched eyebrows, right eyebrow \'different\', open mouth, thick under lip, high arched palate; small skull (-2.5 SD infancy, -2.0 12y), flat skull on backside, webbed neck as infant, right ear deformed and lower placed, two extra front teeth in upper jaw (surgically removed)\r\nsmall lower jaw; pigmented, elastic skin, hairy underarms, low back hairline, course skin on legs and arms, thin brittle hair; Simian palmar crease, fetal fingerpads, short phalanges, most visible on thumb, small brittle nails; loose joints/hypotonia as baby, hearing loss right ear, eye sight cylindric dev(r-3,5 i-2) short stature at age 12 (-2.5 SD), disharmonic intellectual profile, non-verbal learning disability, right hip higher than left, autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "0000078713" "00198" "00100509" "00006" "Isolated (sporadic)" "05y" "low nasal bridge (as infant), epicanthic folds, long eyelashes, bushy eyebrows with synophrys, submucous cleft palate and bifid uvula (corrected with surgery), thin lips, periorbital fullness, round face as infant (as a baby face became less round); small skull (-2.5 SD 5y), flat skull on backside, right ear deformed and lower placed, mild low set ears, overlapping helix superior, normal teeth, permanent teeth more irregular placed than first teeth; normal skin/hair, thick hair, hairy underarms/legs less prominent than as baby, low back hairline; bilateral atypical simian palmar crease, fetal fingerpads, mild short fifth fingers, nails a bit broad, toe nails mildly concave; delayed motor development, bilateral conductive hearing loss (tubes, tonsils extirpated), now grossly normal hearing, normal vision, mild short stature, disharmonic intellectual profile, nonverbal > performal, intelligence in similar range as family members, Raynaud-like phenomena in hands/feet when cold, no intellectual disability, is communicative" "" "" "" "" "" "" "" "" "" "" "" "0000159487" "05484" "00210925" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" ## 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}}" "0000060217" "00060230" "1" "01558" "01558" "2016-03-11 19:13:24" "" "" "SEQ-NG-S" "DNA" "" "" "0000100917" "00100509" "1" "00006" "00006" "2017-03-03 11:31:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000212003" "00210925" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000060217" "RPS23" "0000100917" "RPS23" "0000212003" "RPS23" ## 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 = 6 "{{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}}" "0000091196" "0" "90" "5" "81572302" "81572302" "subst" "0" "01558" "RPS23_000001" "g.81572302C>T" "" "{PMID:Paolini 2017:28257692}, {DOI:Paolini 2017:10.1016/j.ajhg.2017.01.034}" "" "" "" "De novo" "-" "" "0" "" "" "g.82276483C>T" "" "pathogenic" "" "0000163308" "0" "90" "5" "81572002" "81572002" "subst" "0" "00006" "RPS23_000002" "g.81572002A>T" "" "{PMID:Paolini 2017:28257692}, {DOI:Paolini 2017:10.1016/j.ajhg.2017.01.034}" "" "NC_018916.2:g.81005179T>A" "" "De novo" "-" "" "0" "" "" "g.82276183A>T" "" "pathogenic" "" "0000163309" "0" "90" "5" "81572002" "81572002" "subst" "0" "00006" "RPS23_000002" "g.81572002A>T" "" "{PMID:Paolini 2017:28257692}, {DOI:Paolini 2017:10.1016/j.ajhg.2017.01.034}" "" "" "functional characterisation using different assays" "In vitro (cloned)" "-" "" "0" "" "" "g.82276183A>T" "" "NA" "" "0000163310" "0" "90" "5" "81572302" "81572302" "subst" "0" "00006" "RPS23_000001" "g.81572302C>T" "" "{PMID:Paolini 2017:28257692}, {DOI:Paolini 2017:10.1016/j.ajhg.2017.01.034}" "" "" "functional characterisation using different assays" "In vitro (cloned)" "-" "" "0" "" "" "g.82276483C>T" "" "NA" "" "0000354928" "0" "33" "5" "81572002" "81572002" "subst" "0" "01558" "RPS23_000002" "g.81572002A>T" "" "" "" "" "expression cloning in yeast (confirmed) and E. coli (confirmed) indicate the variant does not influence function" "In vitro (cloned)" "-" "" "0" "" "" "g.82276183A>T" "" "NA" "" "0000443643" "1" "90" "5" "81572171" "81572171" "subst" "0" "00006" "RPS23_000003" "g.81572171G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.82276352G>A" "" "pathogenic (dominant)" "" ## 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 RPS23 ## Count = 6 "{{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}}" "0000091196" "00018205" "90" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Lys)" "3" "0000163308" "00018205" "90" "358" "0" "358" "0" "c.358T>A" "r.(?)" "p.(Phe120Ile)" "4" "0000163309" "00018205" "90" "358" "0" "358" "0" "c.358T>A" "r.(?)" "p.Phe120Ile" "4" "0000163310" "00018205" "90" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.Arg67Lys" "3" "0000354928" "00018205" "33" "358" "0" "358" "0" "c.358T>A" "r.(?)" "p.Phe120Ile" "4" "0000443643" "00018205" "90" "285" "46" "285" "46" "c.285+46C>T" "r.spl" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000060217" "0000091196" "0000100917" "0000163308" "0000212003" "0000443643"