### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PANX1) # 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}}" "PANX1" "pannexin 1" "11" "q14-q21" "unknown" "NG_027936.1" "UD_132118331509" "" "https://www.LOVD.nl/PANX1" "" "1" "8599" "24145" "608420" "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/PANX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-17 10:14:52" "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}}" "00015640" "PANX1" "pannexin 1" "001" "NM_015368.3" "" "NP_056183.2" "" "" "" "-385" "2384" "1281" "93862094" "93915138" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05450" "OZEMA;OOMD" "ocyte/zygote/embryo maturation arrest" "" "" "" "" "" "00006" "2018-07-09 09:38:13" "00006" "2024-11-08 11:43:01" "05880" "OZEMA7;OOMD" "ocyte/zygote/embryo maturation arrest, type 7" "AD" "618550" "" "" "" "00006" "2020-11-17 10:14:06" "00006" "2024-11-08 11:48:51" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PANX1" "05370" "PANX1" "05450" "PANX1" "05880" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00401289" "" "" "" "1" "" "04252" "" "" "F" "no" "China" "" "" "" "" "Han Chinese" "Xingwu, Wu" "00401290" "" "" "" "3" "" "00006" "{PMID:Sang 2019:30918116}" "4-generation family, 3 affected sisters, unaffected carrier father" "F" "" "China" "" "0" "" "" "" "Fam1" "00401291" "" "" "" "1" "" "00006" "{PMID:Sang 2019:30918116}" "3-generation family, 1 affected sisters, unaffected carrier father" "F" "" "China" "" "0" "" "" "" "Fam2" "00401292" "" "" "" "3" "" "00006" "{PMID:Sang 2019:30918116}" "5-generation family, 3 affected, unaffected carrier father" "F" "" "China" "" "0" "" "" "" "Fam3" "00401293" "" "" "" "1" "" "00006" "{PMID:Sang 2019:30918116}" "2-generation family, 1 affected" "F" "" "China" "" "0" "" "" "" "Fam4" "00401294" "" "" "" "1" "" "00006" "{PMID:Shao 2016:27129271}, {PMID:Thomas 2025:40043708}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "FamPatIII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00401289" "05880" "00401290" "05370" "00401291" "05370" "00401292" "05370" "00401293" "05370" "00401294" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05370, 05450, 05880 ## Count = 6 "{{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}}" "0000294308" "05880" "00401289" "04252" "Familial, autosomal dominant" "33y" "" "" "33y" "" "" "" "" "" "" "oocyte death" "primary infertility" "" "0000294309" "05370" "00401290" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "OOMD7" "infertility" "" "0000294310" "05370" "00401291" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "OOMD7" "infertility" "" "0000294311" "05370" "00401292" "00006" "Familial, autosomal dominant" "" "see paper; ..., regular menstrual cycles, normal sex hormone concentrations, IVF oocytes died" "" "" "" "" "" "" "" "" "OOMD7" "infertility" "" "0000294312" "05370" "00401293" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "OOMD7" "infertility" "" "0000294313" "00198" "00401294" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., primary ovarian failure, intellectual disability, sensorineural hearing loss, kyphosis, significant speech delay" "00y15m" "" "sensorineural hearing loss" "" "" "" "" "" "" "multisystem dysfunction" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000402533" "00401289" "1" "04252" "04252" "2022-01-31 03:21:34" "00006" "2022-01-31 08:38:48" "PCR;SEQ" "DNA" "peripheral blood" "" "0000402534" "00401290" "1" "00006" "00006" "2022-01-31 08:45:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000402535" "00401291" "1" "00006" "00006" "2022-01-31 08:45:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000402536" "00401292" "1" "00006" "00006" "2022-01-31 08:45:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000402537" "00401293" "1" "00006" "00006" "2022-01-31 08:45:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000402538" "00401294" "1" "00006" "00006" "2022-01-31 09:26:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000402533" "PANX1" ## 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 = 17 "{{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}}" "0000622754" "0" "50" "11" "93911556" "93911556" "subst" "1.21938E-5" "02325" "PANX1_000001" "g.93911556C>G" "" "" "" "PANX1(NM_015368.4):c.343C>G (p.L115V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94178390C>G" "" "VUS" "" "0000805475" "0" "50" "11" "93911731" "93911731" "subst" "0" "01943" "PANX1_000004" "g.93911731C>T" "" "" "" "PANX1(NM_015368.3):c.518C>T (p.P173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805476" "0" "50" "11" "93913270" "93913270" "subst" "3.66035E-5" "01943" "PANX1_000005" "g.93913270G>A" "" "" "" "PANX1(NM_015368.3):c.1048G>A (p.V350I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000836756" "11" "70" "11" "93862564" "93862564" "subst" "0" "04252" "PANX1_000006" "g.93862564G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94129398G>A" "" "likely pathogenic (dominant)" "ACMG" "0000836757" "11" "90" "11" "93913396" "93913396" "subst" "0" "00006" "PANX1_000007" "g.93913396C>T" "" "{PMID:Sang 2019:30918116}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94180230C>T" "" "pathogenic (dominant)" "" "0000836758" "11" "70" "11" "93913258" "93913258" "subst" "0" "00006" "PANX1_000008" "g.93913258A>G" "" "{PMID:Sang 2019:30918116}" "" "" "" "Germline" "?" "" "0" "" "" "g.94180092A>G" "" "pathogenic (dominant)" "" "0000836759" "11" "90" "11" "93913262" "93913262" "subst" "0" "00006" "PANX1_000010" "g.93913262G>C" "" "{PMID:Sang 2019:30918116}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94180096G>C" "" "pathogenic (dominant)" "" "0000836760" "0" "90" "11" "93862540" "93862548" "del" "0" "00006" "PANX1_000009" "g.93862540_93862548del" "" "{PMID:Sang 2019:30918116}" "" "61_69delACGGAGCCC" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94129374_94129382del" "" "pathogenic (dominant)" "" "0000836761" "11" "90" "11" "93913396" "93913396" "subst" "0" "00006" "PANX1_000007" "g.93913396C>T" "" "{PMID:Sang 2019:30918116}" "" "" "in vitro expression PANX1 showed altered glycosylation (reduced GLY1, absent GLY2)" "In vitro (cloned)" "" "" "0" "" "" "g.94180230C>T" "" "NA" "" "0000836762" "11" "90" "11" "93913258" "93913258" "subst" "0" "00006" "PANX1_000008" "g.93913258A>G" "" "{PMID:Sang 2019:30918116}" "" "" "in vitro expression PANX1 showed altered glycosylation (reduced GLY1, absent GLY2)" "In vitro (cloned)" "" "" "0" "" "" "g.94180092A>G" "" "NA" "" "0000836763" "11" "90" "11" "93913262" "93913262" "subst" "0" "00006" "PANX1_000010" "g.93913262G>C" "" "{PMID:Sang 2019:30918116}" "" "" "in vitro expression PANX1 showed altered glycosylation (reduced GLY1, absent GLY2)" "In vitro (cloned)" "" "" "0" "" "" "g.94180096G>C" "" "NA" "" "0000836764" "0" "90" "11" "93862540" "93862548" "del" "0" "00006" "PANX1_000009" "g.93862540_93862548del" "" "{PMID:Sang 2019:30918116}" "" "" "in vitro expression PANX1 showed altered glycosylation (reduced GLY1, absent GLY2)" "In vitro (cloned)" "" "" "0" "" "" "g.94129374_94129382del" "" "NA" "" "0000836765" "0" "10" "11" "93912872" "93912872" "subst" "4.07322E-5" "00006" "PANX1_000011" "g.93912872G>A" "" "{PMID:Sang 2019:30918116}" "" "" "in vitro expression PANX1 shows normal glycosylation (GLY1/GLY2)" "In vitro (cloned)" "" "" "0" "" "" "g.94179706G>A" "" "NA" "" "0000836766" "0" "10" "11" "93913036" "93913036" "subst" "0.102495" "00006" "PANX1_000012" "g.93913036A>G" "" "{PMID:Sang 2019:30918116}" "" "I272V" "in vitro expression PANX1 shows normal glycosylation (GLY1/GLY2)" "In vitro (cloned)" "" "" "0" "" "" "g.94179870A>G" "" "NA" "" "0000836767" "3" "90" "11" "93912872" "93912872" "subst" "4.07322E-5" "00006" "PANX1_000011" "g.93912872G>A" "" "{PMID:Shao 2016:27129271}, {PMID:Thomas 2025:40043708}" "" "" "variant should be classified as VUS; in vitro functional analysis revealed greatly disturbed function; later publication indicates MRPL49 variant explains clinical presentation" "Germline" "" "" "0" "" "" "g.94179706G>A" "" "VUS (!)" "" "0001065566" "0" "50" "11" "93911591" "93911591" "subst" "1.21918E-5" "02325" "PANX1_000013" "g.93911591C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065567" "0" "30" "11" "93911762" "93911762" "subst" "4.07983E-6" "02325" "PANX1_000014" "g.93911762A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PANX1 ## Count = 17 "{{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}}" "0000622754" "00015640" "50" "343" "0" "343" "0" "c.343C>G" "r.(?)" "p.(Leu115Val)" "" "0000805475" "00015640" "50" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0000805476" "00015640" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Val350Ile)" "" "0000836756" "00015640" "70" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Arg29Gln)" "1" "0000836757" "00015640" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Gln392*)" "" "0000836758" "00015640" "70" "1036" "0" "1036" "0" "c.1036A>G" "r.(?)" "p.(Lys346Glu)" "" "0000836759" "00015640" "90" "1040" "0" "1040" "0" "c.1040G>C" "r.(?)" "p.(Cys347Ser)" "" "0000836760" "00015640" "90" "62" "0" "70" "0" "c.62_70del" "r.(?)" "p.(Thr21_Pro23del)" "" "0000836761" "00015640" "90" "1174" "0" "1174" "0" "c.1174C>T" "-" "p.Gln392*" "" "0000836762" "00015640" "90" "1036" "0" "1036" "0" "c.1036A>G" "-" "p.Lys346Glu" "" "0000836763" "00015640" "90" "1040" "0" "1040" "0" "c.1040G>C" "-" "p.Cys347Ser" "" "0000836764" "00015640" "90" "62" "0" "70" "0" "c.62_70del" "-" "p.Thr21_Pro23del" "" "0000836765" "00015640" "10" "650" "0" "650" "0" "c.650G>A" "-" "p.Arg217His" "" "0000836766" "00015640" "10" "814" "0" "814" "0" "c.814A>G" "-" "p.Ile272Val" "" "0000836767" "00015640" "90" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217His)" "" "0001065566" "00015640" "50" "378" "0" "378" "0" "c.378C>G" "r.(?)" "p.(Phe126Leu)" "" "0001065567" "00015640" "30" "545" "4" "545" "4" "c.545+4A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000402533" "0000836756" "0000402534" "0000836757" "0000402535" "0000836758" "0000402536" "0000836759" "0000402537" "0000836760" "0000402538" "0000836767"