### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GOLGA2) # 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}}" "GOLGA2" "golgin A2" "9" "q34.13" "unknown" "NC_000009.11" "UD_132610473193" "" "https://www.LOVD.nl/GOLGA2" "" "1" "4425" "2801" "602580" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/GOLGA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-23 19:54:07" "00000" "2025-11-01 13:22:20" ## 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}}" "00008689" "GOLGA2" "golgin A2" "001" "NM_004486.4" "" "NP_004477.3" "" "" "" "-13" "4247" "3009" "131038268" "131018108" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00218354" "" "" "" "11" "" "00006" "{PMID:Weterman 2012:22012984}, {PMID:Aerts 2015:26900582}" "3-generation family, 11 affected (5F, 6M) heterozygous carriers" "F;M" "no" "Netherlands" "" "0" "" "" "" "22012984-Fam" "00301713" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "F" "" "" "" "0" "" "" "" "17-1853" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00218354" "05113" "00301713" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05113 ## Count = 2 "{{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}}" "0000166797" "05113" "00218354" "00006" "Familial, autosomal dominant" "" "see paper; phenotype includes late-onset Parkinson’s disease, ..." "" "" "" "" "" "" "" "" "CMT-2P" "axonal neuropathy" "" "0000228811" "00198" "00301713" "00006" "Familial, autosomal recessive" "11y" "global developmental delay, microcephaly (head circumference 41.5 cm at 4 yrs and 42.5 at age 11). Best motor milestone achieved was sitting unsupported. She has brisk deep tendon reflexes with clonus. She has unique redness or erythema of the feet and hands secondary to probably autonomic dysfunction. The limbs also are cold on examination. Raynaud\'s phenomenon was not noted, however. She has profound language delay, vision is unaffected. She has motor weakness affecting lower extremities more than upper ones with joint contractures evolving later with finger flexor contractures, elbow contractures. She has good social/eye contact but has stereotypes with hand clapping and shaking. No seizures. Her clinical course was relatively static with no clear regression. Her CK was elevated." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000219423" "00218354" "1" "00006" "00006" "2019-01-23 16:53:11" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000302837" "00301713" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000219423" "LRSAM1" "0000302837" "GOLGA2" ## 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 = 18 "{{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}}" "0000270829" "0" "30" "9" "131015377" "131015377" "subst" "0" "02326" "DNM1_000004" "g.131015377C>G" "" "" "" "DNM1(NM_001005336.3):c.2535-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128253098C>G" "" "likely benign" "" "0000275421" "0" "30" "9" "131015388" "131015388" "subst" "0" "01943" "DNM1_000005" "g.131015388T>C" "" "" "" "DNM1(NM_001288738.1):c.2543T>C (p.I848T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128253109T>C" "" "likely benign" "" "0000454274" "2" "30" "9" "131019438" "131019438" "subst" "0.000170565" "00006" "GOLGA2_000001" "g.131019438G>A" "" "{PMID:Weterman 2012:22012984}" "" "2881C>T (Pro961Ser)" "found in 2/3 healthy individuals, absent in 4/5 affected" "Germline" "no" "" "0" "" "" "g.128257159G>A" "" "likely benign" "" "0000536371" "0" "30" "9" "131021641" "131021641" "subst" "0.000912848" "01804" "CIZ1_000024" "g.131021641A>C" "" "" "" "GOLGA2(NM_004486.4):c.1821T>G (p.(Ser607Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128259362A>C" "" "likely benign" "" "0000666194" "3" "70" "9" "131022826" "131022827" "ins" "0" "00006" "GOLGA2_000002" "g.131022826_131022827insCGGT" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.128260547_128260548insCGGT" "" "likely pathogenic (recessive)" "ACMG" "0000690414" "0" "50" "9" "131037693" "131037693" "subst" "0" "01943" "GOLGA2_000003" "g.131037693G>C" "" "" "" "SWI5(NM_001318092.1):c.7G>C (p.E3Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690415" "0" "30" "9" "131038595" "131038595" "subst" "4.55464E-5" "01943" "GOLGA2_000004" "g.131038595G>C" "" "" "" "SWI5(NM_001040011.1):c.171G>C (p.L57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722277" "0" "50" "9" "131013145" "131013145" "subst" "0" "02329" "CIZ1_000023" "g.131013145G>A" "" "" "" "DNM1(NM_001288738.2):c.2460G>A (p.G820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722278" "0" "50" "9" "131016985" "131016985" "subst" "0" "02329" "CIZ1_000041" "g.131016985G>C" "" "" "" "DNM1(NM_001288739.2):c.2587G>C (p.D863H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924963" "0" "50" "9" "131019405" "131019405" "subst" "0" "02325" "CIZ1_000051" "g.131019405A>G" "" "" "" "GOLGA2(NM_004486.6):c.2950T>C (p.C984R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924964" "0" "50" "9" "131019939" "131019939" "subst" "8.12203E-6" "02325" "CIZ1_000052" "g.131019939G>A" "" "" "" "GOLGA2(NM_004486.6):c.2578C>T (p.R860W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929539" "0" "50" "9" "131021322" "131021322" "subst" "0.00152385" "02325" "CIZ1_000054" "g.131021322G>A" "" "" "" "GOLGA2(NM_004486.6):c.2056C>T (p.R686W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949193" "0" "50" "9" "131022879" "131022879" "subst" "4.09417E-6" "02325" "GOLGA2_000005" "g.131022879C>G" "" "" "" "GOLGA2(NM_004486.6):c.1542G>C (p.W514C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997511" "0" "50" "9" "131016966" "131016966" "subst" "0" "01804" "CIZ1_000068" "g.131016966G>C" "" "" "" "DNM1(NM_001005336.1):c.*49G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997512" "0" "30" "9" "131016980" "131016980" "subst" "0" "01804" "CIZ1_000069" "g.131016980C>G" "" "" "" "DNM1(NM_001288739.1):c.2582C>G (p.(Pro861Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037192" "0" "30" "9" "131022776" "131022776" "subst" "0.00462121" "01804" "GOLGA2_000006" "g.131022776G>C" "" "" "" "GOLGA2(NM_001366244.1):c.1690C>G (p.(Leu564Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046178" "0" "50" "9" "131022879" "131022879" "subst" "0.000143296" "02325" "GOLGA2_000007" "g.131022879C>A" "" "" "" "GOLGA2(NM_004486.6):c.1542G>T (p.W514C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053351" "0" "30" "9" "131024989" "131024989" "subst" "7.34904E-5" "01804" "GOLGA2_000008" "g.131024989G>A" "" "" "" "GOLGA2(NM_001366244.1):c.957-6C>T" "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 GOLGA2 ## Count = 18 "{{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}}" "0000270829" "00008689" "30" "6978" "0" "6978" "0" "c.*3969G>C" "r.(=)" "p.(=)" "" "0000275421" "00008689" "30" "6967" "0" "6967" "0" "c.*3958A>G" "r.(=)" "p.(=)" "" "0000454274" "00008689" "30" "2917" "0" "2917" "0" "c.2917C>T" "r.(?)" "p.(Pro973Ser)" "" "0000536371" "00008689" "30" "1821" "0" "1821" "0" "c.1821T>G" "r.(?)" "p.(Ser607Arg)" "" "0000666194" "00008689" "70" "1594" "0" "1595" "0" "c.1594_1595insACCG" "r.(?)" "p.(Arg532Hisfs*21)" "" "0000690414" "00008689" "50" "84" "479" "84" "479" "c.84+479C>G" "r.(=)" "p.(=)" "" "0000690415" "00008689" "30" "-340" "0" "-340" "0" "c.-340C>G" "r.(?)" "p.(=)" "" "0000722277" "00008689" "50" "9210" "0" "9210" "0" "c.*6201C>T" "r.(=)" "p.(=)" "" "0000722278" "00008689" "50" "5370" "0" "5370" "0" "c.*2361C>G" "r.(=)" "p.(=)" "" "0000924963" "00008689" "50" "2950" "0" "2950" "0" "c.2950T>C" "r.(?)" "p.(Cys984Arg)" "" "0000924964" "00008689" "50" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Trp)" "" "0000929539" "00008689" "50" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Arg686Trp)" "" "0000949193" "00008689" "50" "1542" "0" "1542" "0" "c.1542G>C" "r.(?)" "p.(Trp514Cys)" "" "0000997511" "00008689" "50" "5389" "0" "5389" "0" "c.*2380C>G" "r.(=)" "p.(=)" "" "0000997512" "00008689" "30" "5375" "0" "5375" "0" "c.*2366G>C" "r.(=)" "p.(=)" "" "0001037192" "00008689" "30" "1645" "0" "1645" "0" "c.1645C>G" "r.(?)" "p.(Leu549Val)" "" "0001046178" "00008689" "50" "1542" "0" "1542" "0" "c.1542G>T" "r.(?)" "p.(Trp514Cys)" "" "0001053351" "00008689" "30" "912" "-6" "912" "-6" "c.912-6C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000219423" "0000454274" "0000302837" "0000666194"