### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLAGL1) # 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}}" "PLAGL1" "pleiomorphic adenoma gene-like 1" "6" "q24-q25" "maternal" "NG_009384.1" "UD_132118933731" "" "http://www.LOVD.nl/PLAGL1" "" "1" "9046" "5325" "603044" "1" "1" "1" "1" "alias gene ZAC, LOT1" "" "g" "http://databases.lovd.nl/shared/refseq/PLAGL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-29 15:04:29" "00000" "2023-07-07 10:10:56" ## 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}}" "00016288" "PLAGL1" "transcript variant 3" "002" "NM_001080951.1" "" "NP_001074420.1" "" "" "" "-763" "2516" "1392" "144385735" "144261437" "" "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}}" "00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32" "05615" "TNDM" "diabetes mellitus, transient neonatal (TNDM)" "" "" "" "" "" "00006" "2019-06-28 10:16:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PLAGL1" "05615" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00004491" "" "" "" "1" "" "00006" "{PMID:Azzi 2009:19755383}" "" "?" "?" "France" "" "" "" "" "" "" "00004492" "" "" "" "1" "" "00006" "{PMID:Azzi 2009:19755383}" "" "?" "?" "France" "" "" "" "" "" "" "00004493" "" "" "" "1" "" "00006" "{PMID:Azzi 2009:19755383}" "" "?" "?" "France" "" "" "" "" "" "" "00004494" "" "" "" "1" "" "00006" "{PMID:Azzi 2009:19755383}" "" "?" "?" "France" "" "" "" "" "" "" "00004495" "" "" "" "1" "" "00006" "{PMID:Azzi 2009:19755383}" "" "?" "?" "France" "" "" "" "" "" "" "00004496" "" "" "" "1" "" "00006" "{PMID:Azzi 2009:19755383}" "" "?" "?" "France" "" "" "" "" "" "" "00004497" "" "" "" "1" "" "00006" "{PMID:Azzi 2009:19755383}" "" "?" "?" "France" "" "" "" "" "" "" "00027197" "" "" "" "1" "" "00006" "{PMID:Kagami 2014:25351781}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00027198" "" "" "" "1" "" "00006" "{PMID:Kagami 2014:25351781}" "in vitro fertilization-embryo transfer" "F" "no" "Japan" "" "0" "" "7y-gonadotropin-releasing hormone analog (precocious puberty, breast development)" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00004491" "00232" "00004492" "00232" "00004493" "00232" "00004494" "00232" "00004495" "00232" "00004496" "00232" "00004497" "00232" "00027197" "00232" "00027198" "00232" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00232, 05615 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000003206" "00232" "00004491" "00006" "Complex" "" "" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "nr" "nr" "" "" "0000003207" "00232" "00004492" "00006" "Complex" "" "" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "nr" "nr" "" "" "0000003208" "00232" "00004493" "00006" "Complex" "" "" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "nr" "nr" "" "" "0000003209" "00232" "00004494" "00006" "Complex" "" "" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "nr" "nr" "" "" "0000003210" "00232" "00004495" "00006" "Complex" "" "" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "nr" "nr" "" "" "0000003211" "00232" "00004496" "00006" "Complex" "" "" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "nr" "nr" "" "" "0000003212" "00232" "00004497" "00006" "Complex" "" "" "" "nr" "" "nr" "" "" "" "nr" "" "" "" "nr" "nr" "" "" "0000023270" "00232" "00027197" "00006" "Isolated (sporadic)" "09y06m" "karyotype 46XY, birth length 46.5cm (-2.1 SD), birth weight 2.2 kg (-2.7 SD), birth occipitofrontal circumference 32.5cm (-0.7 SD); present height 120.4cm (-2.3 SD), present weight 26.5kg (-0.7 SD), BMI 18.3 (+1.0 SD), present occipitofrontal circumference 51.5cm (-0.9 SD); speech delayed (HP:0000750); small hands (HP:0200055); single palmar crease (HP:0000954); brachydactyly (HP:000156); clinodactyly (HP:0030084); joint hypermobility (HP:0001382); ear abnormality (HP:0000598); irregular teeth (HP:0040079); no precocious puberty (-HP:0000826); no intellectual disability (-HP:0001249); muscular hypotonia (HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220)" "" "macrocephaly congenital" "41w" "nr" "" "" "" "small" "" "" "" "growth retardation (postnatal)" "asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6" "SRS-like" "0000023271" "00232" "00027198" "00006" "Isolated (sporadic)" "09y02m" "karyotpe 46XX, birth length 36.5cm (-6.0 SD), birth weight 1.2 kg (-4.6 SD), birth occipitofrontal circumference 30.0 cm (-2.0 SD); menarche 8y8m (normal 12.3y +/-1.3y); present height 125.5cm (-1.0 SD), present weight 22.3kg (-1.2 SD), BMI 14.2 (-1.1 SD), present occipitofrontal circumference 50.3cm (-1.5 SD); recurrent otitis media (HP:0000403); small hands (HP:0200055); no single palmar crease (-HP:0000954); no brachydactyly (-HP:000156); clinodactyly (HP:0030084); puberty, precocious (HP:0000826); no intellectual disability (-HP:0001249); no muscular hypotonia (-HP:0001252); dysmorphic face (HP:0001999); prominent forehead (HP:0011220)" "" "macrocephaly congenital" "37w" "nr" "" "" "" "small" "" "" "" "growth retardation (postnatal)" "asymmetric growth" "clinical SRS (Netchine Harbison-Score 5/6" "SRS-like" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000004422" "00004491" "1" "00006" "00006" "2014-01-26 16:29:22" "" "" "Southern" "DNA" "" "" "0000004423" "00004492" "1" "00006" "00006" "2014-01-26 16:29:22" "" "" "Southern" "DNA" "" "" "0000004424" "00004493" "1" "00006" "00006" "2014-01-26 16:29:22" "" "" "Southern" "DNA" "" "" "0000004425" "00004494" "1" "00006" "00006" "2014-01-26 16:29:22" "" "" "Southern" "DNA" "" "" "0000004426" "00004495" "1" "00006" "00006" "2014-01-26 16:29:22" "" "" "Southern" "DNA" "" "" "0000004427" "00004496" "1" "00006" "00006" "2014-01-26 16:29:22" "" "" "Southern" "DNA" "" "" "0000004428" "00004497" "1" "00006" "00006" "2014-01-26 16:29:22" "" "" "Southern" "DNA" "" "" "0000027203" "00027197" "1" "00006" "00006" "2014-12-28 22:03:48" "00006" "2014-12-29 15:05:42" "SEQp" "DNA" "leukocytes" "" "0000027206" "00027198" "1" "00006" "00006" "2014-12-28 22:03:48" "00006" "2014-12-29 17:04:47" "SEQp" "DNA" "leukocytes" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000004422" "PLAGL1" "0000004423" "PLAGL1" "0000004424" "PLAGL1" "0000004425" "PLAGL1" "0000004426" "PLAGL1" "0000004427" "PLAGL1" "0000004428" "PLAGL1" "0000027203" "GNAS" "0000027203" "H19" "0000027203" "KCNQ1" "0000027203" "MEG3" "0000027203" "MEST" "0000027203" "PLAGL1" "0000027203" "SNRPN" "0000027206" "GNAS" "0000027206" "H19" "0000027206" "KCNQ1" "0000027206" "MEG3" "0000027206" "MEST" "0000027206" "PLAGL1" "0000027206" "SNRPN" ## 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}}" "0000023399" "21" "55" "6" "144329301" "144329302" "" "0" "00006" "PLAGL1_000000" "g.144329301_144329302|=" "" "{PMID:Azzi 2009:19755383}" "PstI;SmaI-m" "" "" "Germline" "" "" "" "methylation 0.50" "" "" "" "VUS" "" "0000023400" "21" "55" "6" "144329301" "144329302" "" "0" "00006" "PLAGL1_000000" "g.144329301_144329302|=" "" "{PMID:Azzi 2009:19755383}" "PstI;SmaI-m" "" "" "Germline" "" "" "" "methylation 0.52" "" "" "" "VUS" "" "0000023401" "21" "55" "6" "144329301" "144329302" "" "0" "00006" "PLAGL1_000000" "g.144329301_144329302|=" "" "{PMID:Azzi 2009:19755383}" "PstI;SmaI-m" "" "" "Germline" "" "" "" "methylation 0.57" "" "" "" "VUS" "" "0000023402" "21" "55" "6" "144329301" "144329302" "" "0" "00006" "PLAGL1_000000" "g.144329301_144329302|lom" "" "{PMID:Azzi 2009:19755383}" "PstI;SmaI-m" "" "" "Germline" "" "" "" "LOM (0.34)" "" "" "" "VUS" "" "0000023403" "21" "55" "6" "144329301" "144329302" "" "0" "00006" "PLAGL1_000000" "g.144329301_144329302|lom" "" "{PMID:Azzi 2009:19755383}" "PstI;SmaI-m" "" "" "Germline" "" "" "" "LOM (0.37)" "" "" "" "VUS" "" "0000023404" "21" "55" "6" "144329301" "144329302" "" "0" "00006" "PLAGL1_000000" "g.144329301_144329302|=" "" "{PMID:Azzi 2009:19755383}" "PstI;SmaI-m" "" "" "Germline" "" "" "" "methylation 0.53" "" "" "" "VUS" "" "0000023405" "21" "55" "6" "144329301" "144329302" "" "0" "00006" "PLAGL1_000000" "g.144329301_144329302|=" "" "{PMID:Azzi 2009:19755383}" "PstI;SmaI-m" "" "" "Germline" "" "" "" "methylation 0.56" "" "" "" "VUS" "" "0000050392" "20" "70" "6" "144329332" "144329332" "" "0" "00006" "PLAGL1_000001" "g.144329332|bsr" "" "{PMID:Kagami 2014:25351781}" "" "PLAGL1-DMR CG1" "normal methylation PLAGL1-DMR" "Somatic" "" "" "0" "0.51 (controls 0.31-0.52)" "" "" "" "likely pathogenic" "" "0000050393" "20" "70" "6" "144329330" "144329330" "" "0" "00006" "PLAGL1_000002" "g.144329330|bsr" "" "{PMID:Kagami 2014:25351781}" "" "PLAGL1-DMR CG2" "normal methylation PLAGL1-DMR" "Somatic" "" "" "0" "0.47 (controls 0.27-0.51)" "" "" "" "likely pathogenic" "" "0000050394" "20" "70" "6" "144329319" "144329319" "" "0" "00006" "PLAGL1_000003" "g.144329319|bsr" "" "{PMID:Kagami 2014:25351781}" "" "PLAGL1-DMR CG3" "normal methylation PLAGL1-DMR" "Somatic" "" "" "0" "0.45 (controls 0.40-0.56)" "" "" "" "likely pathogenic" "" "0000050395" "20" "70" "6" "144329317" "144329317" "" "0" "00006" "PLAGL1_000004" "g.144329317|bsr" "" "{PMID:Kagami 2014:25351781}" "" "PLAGL1-DMR CG4" "normal methylation PLAGL1-DMR" "Somatic" "" "" "0" "0.37 (controls 0.31-0.47)" "" "" "" "likely pathogenic" "" "0000050396" "20" "70" "6" "144329315" "144329315" "" "0" "00006" "PLAGL1_000005" "g.144329315|bsr" "" "{PMID:Kagami 2014:25351781}" "" "PLAGL1-DMR CG5" "normal methylation PLAGL1-DMR" "Somatic" "" "" "0" "0.47 (controls 0.40-0.58)" "" "" "" "likely pathogenic" "" "0000050397" "20" "70" "6" "144329310" "144329310" "" "0" "00006" "PLAGL1_000006" "g.144329310|bsr" "" "{PMID:Kagami 2014:25351781}" "" "PLAGL1-DMR CG6" "normal methylation PLAGL1-DMR" "Somatic" "" "" "0" "0.45 (controls 0.37-0.55)" "" "" "" "likely pathogenic" "" "0000050398" "20" "70" "6" "144329302" "144329302" "" "0" "00006" "PLAGL1_000007" "g.144329302|bsr" "0.50 (controls 0.41-0.58)" "{PMID:Kagami 2014:25351781}" "" "PLAGL1-DMR CG7" "normal methylation PLAGL1-DMR" "Somatic" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000050414" "20" "70" "6" "144329302" "144329332" "" "0" "00006" "PLAGL1_000000" "g.144329302_144329332|bsr" "" "{PMID:Kagami 2014:25351781}" "" "PLAGL1-DMR CG1-CG7" "normal methylation PLAGL1-DMR" "Somatic" "" "" "0" "normal levels" "" "" "" "likely pathogenic" "" "0000305823" "0" "50" "6" "144263781" "144263781" "subst" "0" "01943" "PLAGL1_000008" "g.144263781G>A" "" "" "" "PLAGL1(NM_001289045.1):c.172C>T (p.P58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143942644G>A" "" "VUS" "" "0000929156" "0" "50" "6" "144262694" "144262696" "dup" "0" "02325" "PLAGL1_000009" "g.144262694_144262696dup" "" "" "" "PLAGL1(NM_001080951.3):c.1266_1268dupGCA (p.Q423dup)" "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 PLAGL1 ## 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}}" "0000023399" "00016288" "55" "-615" "-22991" "-615" "-22990" "c.-615-22991_-615-22990met" "r.(?)" "p.(?)" "1i" "0000023400" "00016288" "55" "-615" "-22991" "-615" "-22990" "c.-615-22991_-615-22990met" "r.(?)" "p.(?)" "1i" "0000023401" "00016288" "55" "-615" "-22991" "-615" "-22990" "c.-615-22991_-615-22990met" "r.(?)" "p.(?)" "1i" "0000023402" "00016288" "55" "-615" "-22991" "-615" "-22990" "c.-615-22991_-615-22990met" "r.(?)" "p.(?)" "1i" "0000023403" "00016288" "55" "-615" "-22991" "-615" "-22990" "c.-615-22991_-615-22990met" "r.(?)" "p.(?)" "1i" "0000023404" "00016288" "55" "-615" "-22991" "-615" "-22990" "c.-615-22991_-615-22990met" "r.(?)" "p.(?)" "1i" "0000023405" "00016288" "55" "-615" "-22991" "-615" "-22990" "c.-615-22991_-615-22990met" "r.(?)" "p.(?)" "1i" "0000050392" "00016288" "70" "0" "" "0" "" "c.-615-23021bsrC" "r.(=)" "p.(=)" "1i" "0000050393" "00016288" "70" "0" "" "0" "" "c.-615-23019bsrC" "r.(=)" "p.(=)" "1i" "0000050394" "00016288" "70" "0" "" "0" "" "c.-615-23008bsrC" "r.(=)" "p.(=)" "1i" "0000050395" "00016288" "70" "0" "" "0" "" "c.-615-23006bsrC" "r.(=)" "p.(=)" "1i" "0000050396" "00016288" "70" "0" "" "0" "" "c.-615-23004bsrC" "r.(=)" "p.(=)" "1i" "0000050397" "00016288" "70" "0" "" "0" "" "c.-615-22999bsrC" "r.(=)" "p.(=)" "1i" "0000050398" "00016288" "70" "0" "" "0" "" "c.-615-22991bsrC" "r.(=)" "p.(=)" "1i" "0000050414" "00016288" "70" "0" "" "0" "" "c.-615-23021_-615-22991bsrC" "r.(=)" "p.(=)" "1i" "0000305823" "00016288" "50" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Pro58Ser)" "" "0000929156" "00016288" "50" "1266" "0" "1268" "0" "c.1266_1268dup" "r.(?)" "p.(Gln423dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000004422" "0000023399" "0000004423" "0000023400" "0000004424" "0000023401" "0000004425" "0000023402" "0000004426" "0000023403" "0000004427" "0000023404" "0000004428" "0000023405" "0000027203" "0000050392" "0000027203" "0000050393" "0000027203" "0000050394" "0000027203" "0000050395" "0000027203" "0000050396" "0000027203" "0000050397" "0000027203" "0000050398" "0000027206" "0000050414"