### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PAN2) # 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}}" "PAN2" "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)" "12" "q13.2" "unknown" "NC_000012.11" "UD_132319638455" "" "https://www.LOVD.nl/PAN2" "" "1" "20074" "9924" "0" "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/PAN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-24 13:08:01" "00000" "2026-01-20 18:57:21" ## 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}}" "00025532" "PAN2" "transcript variant 1" "011" "NM_001127460.2" "" "NP_001120932.1" "" "" "" "-377" "4995" "3609" "56727533" "56710007" "00006" "2020-06-24 13:09:13" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00331540" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "15DG2222" "00387844" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Kurd" "M8900172" "00412378" "" "" "" "1" "" "00006" "{PMID:Halvardson 2016:27334371}" "" "M" "" "Sweden" "" "0" "" "" "" "Fam22" "00470691" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "M" "" "Poland" "" "0" "" "" "" "Pat52" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00331540" "05517" "00387844" "00139" "00412378" "05611" "00470691" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05517, 05611, 07210 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000249732" "05517" "00331540" "00000" "Familial, autosomal recessive" "" "Abnormal facial shape, Global developmental delay, Metopic synostosis, Scoliosis, DuplicaYes" "" "" "" "" "" "" "" "" "skeletal dysplasia" "0000281412" "00139" "00387844" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "intellectual disability" "0000304383" "05611" "00412378" "00006" "Isolated (sporadic)" "" "intellectual disability, generalized epilepsy, myoclonia" "" "" "" "" "" "" "" "" "intellectual disability, epilepsy" "0000355585" "07210" "00470691" "00006" "Isolated (sporadic)" "16y" "see paper; ... scoliosis, no other skeletal defects; back pain; physical activity" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000332759" "00331540" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389075" "00387844" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000413650" "00412378" "1" "00006" "00006" "2022-06-27 21:35:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472358" "00470691" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000332759" "PAN2" "0000389075" "PAN2" ## 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 = 14 "{{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}}" "0000730041" "3" "90" "12" "56713210" "56713210" "del" "0" "00000" "PAN2_000001" "g.56713210del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001166279.1:c.3162delC:p.(Ser1055Profs*4)" "" "Germline" "" "" "0" "" "" "g.56319426del" "" "likely pathogenic (recessive)" "" "0000817868" "3" "70" "19" "56717955" "56717955" "subst" "0" "00006" "PAN2_000001" "g.56717955G>C" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.56324171G>C" "" "likely pathogenic (recessive)" "" "0000871158" "0" "70" "12" "56717668" "56717668" "subst" "0" "00006" "PAN2_000002" "g.56717668G>T" "" "{PMID:Halvardson 2016:27334371}" "" "C2107A (Q703K)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000967006" "0" "50" "12" "56720687" "56720687" "subst" "0.000325336" "02325" "CNPY2_000001" "g.56720687C>T" "" "" "" "PAN2(NM_001127460.4):c.976G>A (p.V326M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980389" "0" "50" "12" "56712174" "56712174" "subst" "8.12137E-6" "01804" "CNPY2_000002" "g.56712174G>A" "" "" "" "PAN2(NM_014871.5):c.3409C>T (p.(Arg1137Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980390" "0" "50" "12" "56713551" "56713551" "subst" "0" "01804" "CNPY2_000003" "g.56713551A>T" "" "" "" "PAN2(NM_014871.5):c.2947-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980391" "0" "30" "12" "56719109" "56719109" "subst" "0.000223603" "01804" "CNPY2_000004" "g.56719109C>A" "" "" "" "PAN2(NM_014871.5):c.1479+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039370" "0" "50" "12" "56713245" "56713245" "subst" "8.13392E-6" "01804" "CNPY2_000005" "g.56713245C>T" "" "" "" "PAN2(NM_014871.5):c.3117G>A (p.(Ser1039=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039371" "0" "50" "12" "56713457" "56713457" "subst" "0" "01804" "CNPY2_000006" "g.56713457C>G" "" "" "" "PAN2(NM_014871.5):c.3038G>C (p.(Gly1013Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039372" "0" "50" "12" "56713797" "56713797" "subst" "0.000113712" "01804" "CNPY2_000007" "g.56713797G>A" "" "" "" "PAN2(NM_014871.5):c.2797C>T (p.(Pro933Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054365" "0" "50" "12" "56720116" "56720116" "subst" "0" "01804" "CNPY2_000008" "g.56720116C>T" "" "" "" "PAN2(NM_014871.5):c.1340G>A (p.(Arg447His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054366" "0" "30" "12" "56721429" "56721429" "del" "0" "01804" "CNPY2_000009" "g.56721429del" "" "" "" "PAN2(NM_014871.5):c.652-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001060807" "0" "70" "12" "56717840" "56717840" "subst" "0" "00006" "PAN2_000003" "g.56717840G>T" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.56324056G>T" "" "likely pathogenic" "ACMG" "0001065770" "0" "50" "12" "56720180" "56720180" "subst" "2.67473E-5" "02325" "CNPY2_000010" "g.56720180C>T" "" "" "" "" "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 PAN2 ## Count = 14 "{{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}}" "0000730041" "00025532" "90" "3164" "0" "3164" "0" "c.3164del" "r.(?)" "p.(Ser1056Profs*4)" "" "0000817868" "00025532" "70" "1943" "0" "1943" "0" "c.1943C>G" "r.(?)" "p.(Ser648Trp)" "" "0000871158" "00025532" "70" "2107" "0" "2107" "0" "c.2107C>A" "r.(?)" "p.(Gln703Lys)" "" "0000967006" "00025532" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Val326Met)" "" "0000980389" "00025532" "50" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Arg1141Cys)" "" "0000980390" "00025532" "50" "2959" "-3" "2959" "-3" "c.2959-3T>A" "r.spl?" "p.?" "" "0000980391" "00025532" "30" "1479" "10" "1479" "10" "c.1479+10G>T" "r.(=)" "p.(=)" "" "0001039370" "00025532" "50" "3129" "0" "3129" "0" "c.3129G>A" "r.(?)" "p.(=)" "" "0001039371" "00025532" "50" "3050" "0" "3050" "0" "c.3050G>C" "r.(?)" "p.(Gly1017Ala)" "" "0001039372" "00025532" "50" "2809" "0" "2809" "0" "c.2809C>T" "r.(?)" "p.(Pro937Ser)" "" "0001054365" "00025532" "50" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447His)" "" "0001054366" "00025532" "30" "652" "-5" "652" "-5" "c.652-5del" "r.spl?" "p.?" "" "0001060807" "00025532" "70" "2058" "0" "2058" "0" "c.2058C>A" "r.(?)" "p.(Tyr686Ter)" "" "0001065770" "00025532" "50" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Val426Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000332759" "0000730041" "0000389075" "0000817868" "0000413650" "0000871158" "0000472358" "0001060807"