### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PSMC3) # 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}}" "PSMC3" "proteasome (prosome, macropain) 26S subunit, ATPase, 3" "11" "p11.2" "unknown" "NC_000011.9" "UD_132319461085" "" "https://www.LOVD.nl/PSMC3" "" "1" "9549" "5702" "186852" "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/PSMC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-10-24 10:05:25" "00000" "2025-05-05 21:14:00" ## 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}}" "00017035" "PSMC3" "proteasome (prosome, macropain) 26S subunit, ATPase, 3" "001" "NM_002804.4" "" "NP_002795.2" "" "" "" "-194" "1386" "1320" "47448024" "47440320" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07108" "DCIDP" "deafness, cataract, impaired intellectual development, polyneuropathy" "AR" "619354" "" "" "" "00006" "2024-10-24 10:04:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PSMC3" "07108" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00305391" "" "" "" "3" "" "00006" "{PMID:Kröll-Hermi 2020:32500975}" "5-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "" "yes" "Turkey" "" "0" "" "" "" "FamPatIII4" "00305392" "" "" "00305391" "1" "" "00006" "{PMID:Kröll-Hermi 2020:32500975}" "PatIII2" "" "yes" "Turkey" "" "0" "" "" "" "FamPatIII2" "00305393" "" "" "00305391" "1" "" "00006" "{PMID:Kröll-Hermi 2020:32500975}" "PatIII7" "" "yes" "Turkey" "" "0" "" "" "" "FamPatIII7" "00449559" "" "" "" "1" "" "03544" "" "" "M" "no" "" "" "" "" "" "white" "" "00456306" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat1" "00456307" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00456308" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00456309" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4" "00456310" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "family, 1 affected" "F" "" "" "" "0" "" "" "" "Pat5" "00456311" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00456312" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00456313" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00456314" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00456315" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00456316" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat11" "00456317" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00456318" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat13" "00456319" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat14" "00456320" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat15" "00456321" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat16" "00456322" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat17" "00456323" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat18" "00456324" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat19" "00456325" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat20" "00456326" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat21" "00456327" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat22" "00456328" "" "" "" "1" "" "00006" "{PMID:Ebstein 2023:37256937}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00305391" "00198" "00305392" "00198" "00305393" "00198" "00449559" "00138" "00456306" "05611" "00456307" "05611" "00456308" "05611" "00456309" "05611" "00456310" "05611" "00456311" "05611" "00456312" "05611" "00456313" "05611" "00456314" "05611" "00456315" "05611" "00456316" "05611" "00456317" "05611" "00456318" "05611" "00456319" "05611" "00456320" "05611" "00456321" "05611" "00456322" "05611" "00456323" "05611" "00456324" "05611" "00456325" "05611" "00456326" "05611" "00456327" "05611" "00456328" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 05611, 07108 ## Count = 28 "{{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}}" "0000231240" "00198" "00305391" "00006" "Familial, autosomal recessive" "16y" "congenital cataract; strabismus; congenital deafness; round ears; synophrys; short philtrum; malar region retrusion; prominent supraciliary arches; sunken cheeks; no preauricular fibrochondroma; thin upper lip; severe developmental delay; autistic features; peripheral polyneuropathy of lower limbs; calcifications of elbows and knees; depigmented hairs of lower limbs" "" "" "" "" "" "" "" "" "" "deafness, cataract" "" "0000231241" "00198" "00305392" "00006" "Familial, autosomal recessive" "14y" "congenital cataract; no strabismus; congenital deafness; no round ears; no synophrys; short philtrum; malar region retrusion; prominent supraciliary arches; sunken cheeks; no preauricular fibrochondroma; thin upper lip; moderate developmental delay; no autistic features; peripheral polyneuropathy of lower limbs; calcifications of elbows and knees; depigmented hairs of lower limbs" "" "" "" "" "" "" "" "" "" "deafness, cataract" "" "0000231242" "00198" "00305393" "00006" "Familial, autosomal recessive" "7y" "congenital cataract; strabismus; congenital deafness; no round ears; no synophrys; short philtrum; malar region retrusion; prominent supraciliary arches; sunken cheeks; preauricular fibrochondroma; no thin upper lip; severe developmental delay; autistic features; no peripheral polyneuropathy of lower limbs; calcifications of elbows and knees; no depigmented hairs of lower limbs" "" "" "" "" "" "" "" "" "" "deafness, cataract" "" "0000338733" "00138" "00449559" "03544" "Isolated (sporadic)" "03y" "HP:0001249, HP:0000252, HP:0001263, HP:0000752, HP:0100025, HP:0100716, HP:0000286, HP:0000774, HP:0000316, HP:0003781, HP:0000288" "" "" "" "" "" "" "" "" "" "autism" "" "0000338734" "00138" "00449559" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0000286, HP:0000288, HP:0000316, HP:0000752, HP:0000774, HP:0001249, HP:0001263, HP:0003781, HP:0010864, HP:0100716, HP:0100025, HP:0100716" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000344825" "05611" "00456306" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; abnormal behavior" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344826" "05611" "00456307" "00006" "Isolated (sporadic)" "" "MRI brain anomalies; gastrointestinal problems; cardiac malformations; growth failure; feeding difficulties; no microcephaly; no seizures; underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344827" "05611" "00456308" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain normal; skeletal malformations; hypotonia/abnormal tone; no gastrointestinal problems; no cardiac malformations; no abnormal behavior; no growth failure; hearing loss; no feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344828" "05611" "00456309" "00006" "Isolated (sporadic)" "" "developmental delay; facial dysmorphism; intellectual disability; cardiac malformations; no renal malformations; seizures" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344829" "05611" "00456310" "00006" "Unknown" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; no motor delay; no skeletal malformations; hypotonia/abnormal tone; no gastrointestinal problems; no cardiac malformations; no abnormal behavior; no growth failure; hearing loss; no feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344830" "05611" "00456311" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain normal; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; cardiac malformations; abnormal behavior; no growth failure; hearing loss; feeding difficulties; no microcephaly; genital abnormalities; renal malformations; seizures; no underweight" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344831" "05611" "00456312" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; no skeletal malformations; no hypotonia/abnormal tone; no gastrointestinal problems; no cardiac malformations; abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344832" "05611" "00456313" "00006" "Isolated (sporadic)" "" "developmental delay; facial dysmorphism; motor delay; MRI brain anomalies; skeletal malformations; no hypotonia/abnormal tone; no gastrointestinal problems; no abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344833" "05611" "00456314" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain normal; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; no microcephaly; no genital abnormalities; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344834" "05611" "00456315" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; no motor delay; hypotonia/abnormal tone; gastrointestinal problems; no abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; no microcephaly; genital abnormalities; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344835" "05611" "00456316" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; no abnormal behavior; no growth failure; no hearing loss; no feeding difficulties; genital abnormalities; seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344836" "05611" "00456317" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; no motor delay; no skeletal malformations; no hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; abnormal behavior; no growth failure; hearing loss; feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344837" "05611" "00456318" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; no facial dysmorphism; no intellectual disability; no motor delay; MRI brain normal; no hypotonia/abnormal tone; no gastrointestinal problems; cardiac malformations; no abnormal behavior; growth failure; hearing loss; no feeding difficulties; no microcephaly; no seizures; underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344838" "05611" "00456319" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; intellectual disability; motor delay; MRI brain anomalies; hypotonia/abnormal tone; no gastrointestinal problems; hearing loss; no seizures; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344839" "05611" "00456320" "00006" "Isolated (sporadic)" "" "developmental delay; facial dysmorphism; MRI brain anomalies; cardiac malformations; no hearing loss; no genital abnormalities; no renal malformations; no seizures" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344840" "05611" "00456321" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; cardiac malformations; no abnormal behavior; growth failure; hearing loss; feeding difficulties; microcephaly; genital abnormalities; renal malformations; seizures; no underweight; short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344841" "05611" "00456322" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; gastrointestinal problems; cardiac malformations; abnormal behavior; growth failure; hearing loss; feeding difficulties; microcephaly; no genital abnormalities; renal malformations; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344842" "05611" "00456323" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; cardiac malformations; no abnormal behavior; growth failure; hearing loss; feeding difficulties; microcephaly; genital abnormalities; renal malformations; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344843" "05611" "00456324" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; cardiac malformations; growth failure; microcephaly" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344844" "05611" "00456325" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; hypotonia/abnormal tone; no gastrointestinal problems; cardiac malformations; abnormal behavior; no growth failure; no hearing loss; feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344845" "05611" "00456326" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; motor delay; skeletal malformations; no hypotonia/abnormal tone; no gastrointestinal problems; abnormal behavior; growth failure; no hearing loss; no feeding difficulties; microcephaly; no genital abnormalities; no renal malformations; no seizures; underweight; short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344846" "05611" "00456327" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; no facial dysmorphism; intellectual disability; motor delay; no skeletal malformations; no hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; abnormal behavior; growth failure; no hearing loss; no feeding difficulties; microcephaly; no genital abnormalities; no renal malformations; no seizures; no underweight; no short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" "0000344847" "05611" "00456328" "00006" "Isolated (sporadic)" "" "developmental delay; speech delay; facial dysmorphism; no intellectual disability; motor delay; MRI brain anomalies; skeletal malformations; no hypotonia/abnormal tone; gastrointestinal problems; no cardiac malformations; no abnormal behavior; growth failure; no hearing loss; feeding difficulties; no microcephaly; no genital abnormalities; no renal malformations; no seizures; underweight; short stature" "" "" "" "" "" "" "" "" "DCIDP" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000306519" "00305391" "1" "00006" "00006" "2020-06-24 16:05:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000306520" "00305392" "1" "00006" "00006" "2020-06-24 16:05:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000306521" "00305393" "1" "00006" "00006" "2020-06-24 16:05:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000451149" "00449559" "1" "03544" "03544" "2024-04-22 14:55:49" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000457923" "00456306" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457924" "00456307" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457925" "00456308" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457926" "00456309" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457927" "00456310" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457928" "00456311" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457929" "00456312" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457930" "00456313" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457931" "00456314" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457932" "00456315" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457933" "00456316" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457934" "00456317" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457935" "00456318" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457936" "00456319" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457937" "00456320" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457938" "00456321" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457939" "00456322" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457940" "00456323" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457941" "00456324" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457942" "00456325" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457943" "00456326" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457944" "00456327" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457945" "00456328" "1" "00006" "00006" "2024-10-24 11:13:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000306519" "PSMC3" "0000306520" "PSMC3" "0000306521" "PSMC3" ## 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 = 34 "{{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}}" "0000299542" "0" "30" "11" "47436707" "47436707" "subst" "0.000627762" "02329" "SLC39A13_000010" "g.47436707C>T" "" "" "" "SLC39A13(NM_001128225.2):c.1037C>T (p.(Pro346Leu)), SLC39A13(NM_001128225.3):c.1037C>T (p.P346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47415156C>T" "" "likely benign" "" "0000544505" "0" "30" "11" "47435978" "47435978" "subst" "0" "01804" "PSMC3_000002" "g.47435978C>T" "" "" "" "SLC39A13(NM_001128225.2):c.738C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47414427C>T" "" "likely benign" "" "0000544506" "0" "30" "11" "47436467" "47436467" "subst" "6.58555E-5" "02329" "PSMC3_000003" "g.47436467G>A" "" "" "" "SLC39A13(NM_001128225.3):c.919+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47414916G>A" "" "likely benign" "" "0000544507" "0" "30" "11" "47436476" "47436476" "subst" "8.31878E-6" "02329" "PSMC3_000004" "g.47436476G>A" "" "" "" "SLC39A13(NM_001128225.3):c.919+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47414925G>A" "" "likely benign" "" "0000670207" "3" "90" "11" "47441478" "47441478" "subst" "0" "00006" "PSMC3_000005" "g.47441478T>C" "" "{PMID:Kröll-Hermi 2020:32500975}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47419927T>C" "" "pathogenic (recessive)" "" "0000670208" "3" "90" "11" "47441478" "47441478" "subst" "0" "00006" "PSMC3_000005" "g.47441478T>C" "" "{PMID:Kröll-Hermi 2020:32500975}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47419927T>C" "" "pathogenic (recessive)" "" "0000670209" "3" "90" "11" "47441478" "47441478" "subst" "0" "00006" "PSMC3_000005" "g.47441478T>C" "" "{PMID:Kröll-Hermi 2020:32500975}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47419927T>C" "" "pathogenic (recessive)" "" "0000984927" "0" "90" "11" "47442253" "47442253" "subst" "0" "03544" "PSMC3_000006" "g.47442253G>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.47420702G>C" "{CV:3363101}" "pathogenic (dominant)" "ACMG" "0000999125" "0" "30" "11" "47436707" "47436707" "subst" "0.000627762" "01804" "SLC39A13_000010" "g.47436707C>T" "" "" "" "SLC39A13(NM_001128225.2):c.1037C>T (p.(Pro346Leu)), SLC39A13(NM_001128225.3):c.1037C>T (p.P346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001012492" "0" "90" "11" "47445677" "47445677" "subst" "0" "00006" "PSMC3_000020" "g.47445677G>A" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "rs775517283" "0" "" "" "g.47424126G>A" "" "pathogenic (dominant)" "" "0001012493" "0" "90" "11" "47445665" "47445665" "subst" "0" "00006" "PSMC3_000019" "g.47445665T>C" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47424114T>C" "" "pathogenic (dominant)" "" "0001012494" "0" "90" "11" "47444430" "47444430" "subst" "0" "00006" "PSMC3_000018" "g.47444430G>A" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422879G>A" "" "pathogenic (dominant)" "" "0001012495" "0" "90" "11" "47444406" "47444406" "subst" "0" "00006" "PSMC3_000017" "g.47444406G>A" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422855G>A" "" "pathogenic (dominant)" "" "0001012496" "0" "90" "11" "47444234" "47444234" "subst" "0" "00006" "PSMC3_000016" "g.47444234T>C" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47422683T>C" "" "pathogenic (dominant)" "" "0001012497" "0" "90" "11" "47444233" "47444233" "subst" "0" "00006" "PSMC3_000015" "g.47444233A>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422682A>G" "" "pathogenic (dominant)" "" "0001012498" "0" "90" "11" "47444227" "47444227" "subst" "0" "00006" "PSMC3_000014" "g.47444227A>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422676A>G" "" "pathogenic (dominant)" "" "0001012499" "0" "90" "11" "47444227" "47444227" "subst" "0" "00006" "PSMC3_000014" "g.47444227A>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422676A>G" "" "pathogenic (dominant)" "" "0001012500" "0" "90" "11" "47444227" "47444227" "subst" "0" "00006" "PSMC3_000014" "g.47444227A>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422676A>G" "" "pathogenic (dominant)" "" "0001012501" "0" "90" "11" "47444227" "47444227" "subst" "0" "00006" "PSMC3_000014" "g.47444227A>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422676A>G" "" "pathogenic (dominant)" "" "0001012502" "0" "90" "11" "47444227" "47444227" "subst" "0" "00006" "PSMC3_000014" "g.47444227A>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422676A>G" "" "pathogenic (dominant)" "" "0001012503" "0" "90" "11" "47444227" "47444227" "subst" "0" "00006" "PSMC3_000014" "g.47444227A>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422676A>G" "" "pathogenic (dominant)" "" "0001012504" "0" "90" "11" "47444225" "47444225" "subst" "0" "00006" "PSMC3_000013" "g.47444225C>T" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422674C>T" "" "pathogenic (dominant)" "" "0001012505" "0" "90" "11" "47444203" "47444203" "subst" "0" "00006" "PSMC3_000012" "g.47444203C>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422652C>G" "" "pathogenic (dominant)" "" "0001012506" "0" "90" "11" "47444150" "47444150" "subst" "0" "00006" "PSMC3_000011" "g.47444150C>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47422599C>G" "" "pathogenic (dominant)" "" "0001012507" "0" "90" "11" "47442253" "47442253" "subst" "0" "00006" "PSMC3_000010" "g.47442253G>A" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "rs1363348500" "0" "" "" "g.47420702G>A" "" "pathogenic (dominant)" "" "0001012508" "0" "90" "11" "47442253" "47442253" "subst" "0" "00006" "PSMC3_000010" "g.47442253G>A" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "rs1363348500" "0" "" "" "g.47420702G>A" "" "pathogenic (dominant)" "" "0001012509" "0" "90" "11" "47442253" "47442253" "subst" "0" "00006" "PSMC3_000010" "g.47442253G>A" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "rs1363348500" "0" "" "" "g.47420702G>A" "" "pathogenic (dominant)" "" "0001012510" "0" "90" "11" "47442253" "47442253" "subst" "0" "00006" "PSMC3_000010" "g.47442253G>A" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "rs1363348500" "0" "" "" "g.47420702G>A" "" "pathogenic (dominant)" "" "0001012511" "0" "90" "11" "47442253" "47442253" "subst" "0" "00006" "PSMC3_000006" "g.47442253G>C" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47420702G>C" "" "pathogenic (dominant)" "" "0001012512" "0" "90" "11" "47442248" "47442248" "subst" "0" "00006" "PSMC3_000009" "g.47442248C>A" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47420697C>A" "" "pathogenic (dominant)" "" "0001012513" "0" "90" "11" "47442234" "47442234" "subst" "0" "00006" "PSMC3_000008" "g.47442234A>G" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47420683A>G" "" "pathogenic (dominant)" "" "0001012514" "0" "90" "11" "47440729" "47440729" "subst" "0" "00006" "PSMC3_000007" "g.47440729C>T" "" "{PMID:Ebstein 2023:37256937}" "" "" "" "De novo" "" "" "0" "" "" "g.47419178C>T" "" "pathogenic (dominant)" "" "0001038498" "0" "30" "11" "47436032" "47436032" "subst" "0.000142088" "01804" "PSMC3_000021" "g.47436032C>T" "" "" "" "SLC39A13(NM_001128225.3):c.786+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038499" "0" "50" "11" "47436886" "47436886" "subst" "0" "01804" "PSMC3_000022" "g.47436886T>C" "" "" "" "SLC39A13(NM_001128225.3):c.1088T>C (p.(Met363Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 PSMC3 ## Count = 34 "{{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}}" "0000299542" "00017035" "30" "4999" "0" "4999" "0" "c.*3679G>A" "r.(=)" "p.(=)" "" "0000544505" "00017035" "30" "5728" "0" "5728" "0" "c.*4408G>A" "r.(=)" "p.(=)" "" "0000544506" "00017035" "30" "5239" "0" "5239" "0" "c.*3919C>T" "r.(=)" "p.(=)" "" "0000544507" "00017035" "30" "5230" "0" "5230" "0" "c.*3910C>T" "r.(=)" "p.(=)" "" "0000670207" "00017035" "90" "1127" "337" "1127" "337" "c.1127+337A>G" "r.1127+1_1128-1ins1127+223_1127+336" "p.Ser376Argfs15*" "10i" "0000670208" "00017035" "90" "1127" "337" "1127" "337" "c.1127+337A>G" "r.1127+1_1128-1ins1127+223_1127+337" "p.Ser376Argfs15*" "10i" "0000670209" "00017035" "90" "1127" "337" "1127" "337" "c.1127+337A>G" "r.1127+1_1128-1ins1127+223_1127+338" "p.Ser376Argfs15*" "10i" "0000984927" "00017035" "90" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Arg304Gly)" "9" "0000999125" "00017035" "30" "4999" "0" "4999" "0" "c.*3679G>A" "r.(=)" "p.(=)" "" "0001012492" "00017035" "90" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0001012493" "00017035" "90" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Met175Val)" "" "0001012494" "00017035" "90" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Pro229Leu)" "" "0001012495" "00017035" "90" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ala237Val)" "" "0001012496" "00017035" "90" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Met259Val)" "" "0001012497" "00017035" "90" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Met259Thr)" "" "0001012498" "00017035" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0001012499" "00017035" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0001012500" "00017035" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0001012501" "00017035" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0001012502" "00017035" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0001012503" "00017035" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Ile261Thr)" "" "0001012504" "00017035" "90" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Gly262Arg)" "" "0001012505" "00017035" "90" "806" "0" "806" "0" "c.806G>C" "r.(?)" "p.(Arg269Pro)" "" "0001012506" "00017035" "90" "859" "0" "859" "0" "c.859G>C" "r.(?)" "p.(Glu287Gln)" "" "0001012507" "00017035" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0001012508" "00017035" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0001012509" "00017035" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0001012510" "00017035" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0001012511" "00017035" "90" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Arg304Gly)" "" "0001012512" "00017035" "90" "915" "0" "915" "0" "c.915G>T" "r.(?)" "p.(Glu305Asp)" "" "0001012513" "00017035" "90" "929" "0" "929" "0" "c.929T>C" "r.(?)" "p.(Met310Thr)" "" "0001012514" "00017035" "90" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Glu383Lys)" "" "0001038498" "00017035" "30" "5674" "0" "5674" "0" "c.*4354G>A" "r.(=)" "p.(=)" "" "0001038499" "00017035" "50" "4820" "0" "4820" "0" "c.*3500A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000306519" "0000670207" "0000306520" "0000670208" "0000306521" "0000670209" "0000451149" "0000984927" "0000457923" "0001012492" "0000457924" "0001012493" "0000457925" "0001012494" "0000457926" "0001012495" "0000457927" "0001012496" "0000457928" "0001012497" "0000457929" "0001012498" "0000457930" "0001012499" "0000457931" "0001012500" "0000457932" "0001012501" "0000457933" "0001012502" "0000457934" "0001012503" "0000457935" "0001012504" "0000457936" "0001012505" "0000457937" "0001012506" "0000457938" "0001012507" "0000457939" "0001012508" "0000457940" "0001012509" "0000457941" "0001012510" "0000457942" "0001012511" "0000457943" "0001012512" "0000457944" "0001012513" "0000457945" "0001012514"