### 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/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"