### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POPDC3) # 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}}" "POPDC3" "popeye domain containing 3" "6" "q21" "unknown" "NC_000006.11" "UD_133034051557" "" "https://www.LOVD.nl/POPDC3" "" "1" "17649" "64208" "605824" "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/POPDC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-01-11 10:26:57" "00006" "2026-03-06 17:26:39" ## 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}}" "00016550" "POPDC3" "transcript variant 1" "001" "NM_022361.4" "" "NP_071756.2" "" "" "" "-402" "1446" "876" "105627858" "105605775" "" "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}}" "00141" "LGMD2" "dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)" "" "" "" "" "" "00006" "2013-06-10 21:06:19" "00006" "2021-12-11 13:56:28" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "06727" "LGMDR26" "dystrophy, muscular, limb-girdle, autosomal recessive, type 26" "AR" "618848" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2024-01-10 22:25:07" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "POPDC3" "05126" "POPDC3" "06727" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00445374" "" "" "" "1" "" "00006" "{PMID:Ullah 2022:35075722}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "family" "00445376" "" "" "" "2" "" "00006" "{PMID:Vissing 2019:31610034}" "2-generation family, affected brother/sister, unaffected heterozygous mother/relatives" "M" "yes" "Denmark" "" "0" "" "" "" "FamIPat1" "00445377" "" "" "00445376" "1" "" "00006" "{PMID:Vissing 2019:31610034}" "sister" "F" "yes" "Denmark" "" "0" "" "" "" "FamIPat2" "00445378" "" "" "" "1" "" "00006" "{PMID:Vissing 2019:31610034}" "2-generation family, 1 affected, unaffected parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "FamIIPat1" "00445379" "" "" "" "2" "" "00006" "{PMID:Vissing 2019:31610034}" "2-generation family, affected brothers, unaffected heterozygous mother/relatives" "M" "yes" "Spain" "" "0" "" "" "" "FamIIIPat1" "00445380" "" "" "00445379" "1" "" "00006" "{PMID:Vissing 2019:31610034}" "brother" "M" "yes" "Spain" "" "0" "" "" "" "FamIIIPat2" "00466377" "" "" "" "1" "" "04653" "Pending" "" "F" "" "France" "" "0" "" "" "" "" "00473951" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9908426Pat1481" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00445374" "00141" "00445376" "05126" "00445377" "05126" "00445378" "05126" "00445379" "05126" "00445380" "05126" "00466377" "06727" "00473951" "05121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00141, 05121, 05126, 06727 ## Count = 8 "{{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}}" "0000334610" "00141" "00445374" "00006" "Familial, autosomal recessive" "" "see paper; ..., 3y-difficulty in climbing stairs/walking without aid; proximal/lower limb muscle weakness, especially calf muscle; high serum creatine kinase levels (324 U/L)" "" "" "" "" "" "" "" "LGMDR26" "limb-girdle muscular dystrophy" "0000334611" "05126" "00445376" "00006" "Familial, autosomal recessive" "50y" "see paper; ..., normal pregnancy; calf hypertrophy ; no cardiac Holter/ECG anomalies; falls, poor runner ; creatine kinase level 2000-9227 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies" "40y" "" "" "" "" "" "" "LGMDR26" "limb girdle muscular dystrophy" "0000334612" "05126" "00445377" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., normal pregnancy; calf hypertrophy ; no cardiac Holter/ECG anomalies; poor runner ; creatine kinase level 1200-1770 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies" "14y-19y" "" "" "" "" "" "" "LGMDR26" "limb girdle muscular dystrophy" "0000334613" "05126" "00445378" "00006" "Familial, autosomal recessive" "36y" "see paper; ..., normal pregnancy; no calf hypertrophy ; no cardiac Holter/ECG anomalies; poor runner ; creatine kinase level 1050-7650 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies" "25y" "" "" "" "" "" "" "LGMDR26" "limb girdle muscular dystrophy" "0000334614" "05126" "00445379" "00006" "Familial, autosomal recessive" "59y" "see paper; ..., normal pregnancy; no calf hypertrophy ; no cardiac Holter/ECG anomalies; poor runner ; creatine kinase level 2000-4500 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies" "20y" "" "" "" "" "" "" "LGMDR26" "limb girdle muscular dystrophy" "0000334615" "05126" "00445380" "00006" "Familial, autosomal recessive" "57y" "see paper; ..., normal pregnancy; calf hypertrophy ; no cardiac Holter/ECG anomalies; atrophy of gastrocnemius ; creatine kinase level 4000-6000 U/L; weak reflexes ; no neurological manifestations ; no dysmorphic features ; no skeletal anomalies; normal hearing; no eye anomalies" "35y" "" "" "" "" "" "" "LGMDR26" "limb girdle muscular dystrophy" "0000351741" "06727" "00466377" "04653" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "LGMDR26" "LGMD" "0000358746" "05121" "00473951" "00006" "Unknown" "32y" "onset 22y with difficulty walking and Lt. lower limb weakness which extended to Rt. upper limb later; Mild cardiac problem; Muscle weakness, distal>proximal, Lt. leg & Rt. hand; Mild Claw toe; Mild pes cavus; Muscle wasting in distal of left leg & distal of right hand; Mild thenar & hypothenar atrophy; Tremor in right hand; Loss of tip-toe walking since 6-mo ago; Abnormal gait; Difficulty walking, running and climbing steps, mild; Elevated level of AST, ALT, LDH & CPK; Mild deformity in left ankle;Muscle biopsy showed slight myopathic atrophy with prominent internalization of nuclei and few basophilic degenerative/regenerative fibers associated with some moth-eaten fibers and secondary neurogenic changes fiber type grouping; EMG-NCV was in favor of a myopathic process mostly involving GC muscles, R/O Miyoshi type of dysferlinopathy." "" "" "" "" "" "" "" "" "muscular dystrophy" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000446945" "00445374" "1" "00006" "00006" "2024-01-10 22:33:02" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000446947" "00445376" "1" "00006" "00006" "2024-01-11 10:31:46" "" "" "SEQ" "DNA" "" "" "0000446948" "00445377" "1" "00006" "00006" "2024-01-11 10:31:46" "" "" "SEQ" "DNA" "" "" "0000446949" "00445378" "1" "00006" "00006" "2024-01-11 10:31:46" "" "" "SEQ" "DNA" "" "" "0000446950" "00445379" "1" "00006" "00006" "2024-01-11 10:31:46" "" "" "SEQ" "DNA" "" "" "0000446951" "00445380" "1" "00006" "00006" "2024-01-11 10:31:46" "" "" "SEQ" "DNA" "" "" "0000468039" "00466377" "1" "04653" "04653" "2025-08-26 09:30:01" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000475620" "00473951" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000446947" "POPDC3" "0000446948" "POPDC3" "0000446949" "POPDC3" "0000446950" "POPDC3" "0000446951" "POPDC3" ## 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 = 10 "{{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}}" "0000526572" "0" "30" "6" "105606440" "105606440" "subst" "2.84403E-5" "01804" "POPDC3_000001" "g.105606440G>A" "" "" "" "POPDC3(NM_022361.4):c.781C>T (p.(Arg261Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105158565G>A" "" "likely benign" "" "0000955382" "3" "90" "6" "105609325" "105609325" "subst" "0" "00006" "POPDC3_000002" "g.105609325T>C" "" "{PMID:Ullah 2022:35075722}" "" "" "" "Germline" "" "" "0" "" "" "g.105161450T>C" "" "likely pathogenic (recessive)" "" "0000955384" "3" "90" "6" "105606439" "105606439" "subst" "8.12599E-6" "00006" "POPDC3_000003" "g.105606439C>T" "" "{PMID:Vissing 2019:31610034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105158564C>T" "" "pathogenic (recessive)" "" "0000955385" "3" "90" "6" "105606439" "105606439" "subst" "8.12599E-6" "00006" "POPDC3_000003" "g.105606439C>T" "" "{PMID:Vissing 2019:31610034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105158564C>T" "" "pathogenic (recessive)" "" "0000955386" "3" "90" "6" "105609321" "105609321" "subst" "1.22136E-5" "00006" "POPDC3_000005" "g.105609321A>T" "" "{PMID:Vissing 2019:31610034}" "" "" "" "Germline" "" "" "0" "" "" "g.105161446A>T" "" "pathogenic (recessive)" "" "0000955387" "3" "90" "6" "105606570" "105606570" "subst" "4.07674E-6" "00006" "POPDC3_000004" "g.105606570T>A" "" "{PMID:Vissing 2019:31610034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105158695T>A" "" "pathogenic (recessive)" "" "0000955388" "3" "90" "6" "105606570" "105606570" "subst" "4.07674E-6" "00006" "POPDC3_000004" "g.105606570T>A" "" "{PMID:Vissing 2019:31610034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.105158695T>A" "" "pathogenic (recessive)" "" "0000963763" "0" "70" "6" "105609321" "105609321" "subst" "1.22136E-5" "02327" "POPDC3_000005" "g.105609321A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001047500" "3" "70" "6" "105607700" "105607700" "subst" "4.06914E-6" "04653" "POPDC3_000006" "g.105607700A>T" "" "Pending" "" "" "" "Germline" "" "" "0" "" "" "g.105159825A>T" "" "likely pathogenic (recessive)" "ACMG" "0001070013" "3" "50" "6" "105609469" "105609469" "subst" "2.4372E-5" "00006" "POPDC3_000007" "g.105609469G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.105161594G>A" "SCV006075160" "VUS" "ACMG" ## 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 POPDC3 ## Count = 10 "{{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}}" "0000526572" "00016550" "30" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Trp)" "" "0000955382" "00016550" "90" "460" "0" "460" "0" "c.460A>G" "r.(?)" "p.(Lys154Glu)" "" "0000955384" "00016550" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000955385" "00016550" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000955386" "00016550" "90" "464" "0" "464" "0" "c.464T>A" "r.(?)" "p.(Leu155His)" "" "0000955387" "00016550" "90" "651" "0" "651" "0" "c.651A>T" "r.(?)" "p.(Leu217Phe)" "" "0000955388" "00016550" "90" "651" "0" "651" "0" "c.651A>T" "r.(?)" "p.(Leu217Phe)" "" "0000963763" "00016550" "70" "464" "0" "464" "0" "c.464T>A" "r.(?)" "p.(Leu155His)" "" "0001047500" "00016550" "70" "486" "-6" "486" "-6" "c.486-6T>A" "r.spl?" "p.?" "" "0001070013" "00016550" "50" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000446945" "0000955382" "0000446947" "0000955384" "0000446948" "0000955385" "0000446949" "0000955386" "0000446950" "0000955387" "0000446951" "0000955388" "0000468039" "0001047500" "0000475620" "0001070013"