### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF526) # 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}}" "ZNF526" "zinc finger protein 526" "19" "q13.31" "unknown" "NC_000019.9" "UD_132378787745" "" "https://www.LOVD.nl/ZNF526" "" "1" "29415" "116115" "614387" "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/ZNF526_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-20 15:22:18" "00006" "2024-11-08 11:21:36" ## 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}}" "00023500" "ZNF526" "zinc finger protein 526" "001" "NM_133444.1" "" "NP_597701.1" "" "" "" "-156" "3798" "2013" "42724492" "42732353" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07110" "DENNED" "Dentici-Novelli neurodevelopmental syndrome" "AR" "619877" "" "" "" "00006" "2024-11-08 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZNF526" "07110" ## 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}}" "00225675" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam12DG0685" "00361546" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG0532" "00403685" "" "" "" "1" "" "00006" "{PMID:Dentici 2022:33397746}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Italy" "" "0" "" "" "" "Fam1Pat1" "00403686" "" "" "" "1" "" "00006" "{PMID:Dentici 2022:33397746}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Canada" "" "0" "" "" "French Canadian;Europe-N" "Fam2Pat2" "00403687" "" "" "" "2" "" "00006" "{PMID:Dentici 2022:33397746}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Syria" "" "0" "" "" "" "Fam3Pat3" "00403688" "" "" "" "1" "" "00006" "{PMID:Dentici 2022:33397746}" "sister" "F" "yes" "Syria" "5y" "0" "" "" "" "Fam3Pat4" "00403689" "" "" "" "1" "" "00006" "{PMID:Dentici 2022:33397746}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Algeria" "" "0" "" "" "" "Fam4Pat5" "00457342" "" "" "" "1" "" "04459" "" "" "F" "" "China" "" "0" "" "" "Chinese" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00225675" "00198" "00361546" "00139" "00403685" "05611" "00403686" "05611" "00403687" "05611" "00403688" "05611" "00403689" "05611" "00457342" "07110" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 07110 ## Count = 8 "{{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}}" "0000170781" "00198" "00225675" "00006" "Familial, autosomal recessive" "" "see paper; …, intellectual disability, Noonan-like facies, and pulmonary stenosis" "" "" "" "" "" "" "" "" "DENNED" "neurogenetic disorder" "" "0000256951" "00139" "00361546" "00006" "Familial, autosomal recessive" "2y8m" "syndromic; intellectual disability, dysmorphism, and pulmonary stenosis" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000296380" "05611" "00403685" "00006" "Familial, autosomal recessive" "00y37m" "birth 39w, weight 2700g (SD-2.7), length 48cm (SD-0.7), OFC 30.5cm (SD-2.9); 22m weight 8.5kg (SD-3), length 75cm (SD-2.6), OFC 39.5cm (SD-5.5); microcephaly, sloping forehead, upslanting palpebral fissures, high nasal bridge, large ears, thin upper lip, pointed chin; no hearing loss; no congenital heart defect; ocular cataracts; profound psychomotor developmental delay; 37m-head control intermittent; not sitting; not walking; no speech; severe developmental delay/intellectual disability; hypertonic–dystonic movements; hypertonia; axial hypotonia; no nystagmus; no stereotypies; no abnormal behaviour; myoclonic seizures; EEG diffuse slow waves and epileptic discharges; 2y-MRI-brain simplified gyration, thin and arched corpus callosum mainly in the posterior sections, mild hypomyelination" "" "" "" "" "" "" "" "" "DENNED" "neurodevelopmental delay" "" "0000296381" "05611" "00403686" "00006" "Familial, autosomal recessive" "00y33m" "birth 41w, 5dweight 3700g (SD+1), length 50cm (SD+1.9), OGC32.5cm (SD-2); 17m weight 11.8kg (SD11–50th), length 79.5cm (SD3rd), OFC 40cm (SD−4) 33m-unchanged (SD−8); microcephaly, sloping forehead, large ears with fleshy lobules; no hearing loss; no congenital heart defect; ocular cataracts; profound psychomotor developmental delay; 18m-head control intermittent; not sitting; 33m-walk with walker; no speech; severe developmental delay/intellectual disability; cerebral visual impairment; hypotonic with brisk reflexes; hypertonia; axial hypotonia; no nystagmus; no stereotypies; no abnormal behaviour; infantile spasms, evolving into generalised tonic–clonic, tonic and startle seizures. Refractory to medication and ketogenic diet; EEG hypsarrhythmia; 7m-MRI-brain moderate dilation of the extra-axial CSF space and supratentorial ventricular system, reduction of the bulk of white matter and delayed myelination" "" "" "" "" "" "" "" "" "DENNED" "neurodevelopmental delay" "" "0000296382" "05611" "00403687" "00006" "Familial, autosomal recessive" "07y" "birth weight 2200g; 4y weight 29.5kg (SD+1), OFC 44.7cm (SD-6); microcephaly, sloping forehead, hypertelorism, upslanting palpebral fissures, large ears; hearing loss, abnormal auditory evoked potentials; no congenital heart defect; ocular cataracts, clinically blind; profound psychomotor developmental delay; 3y-no head control; not sitting; not walking; no speech; severe developmental delay/intellectual disability; dystonic tetraparesis; initially truncal hypotonia; hypertonia; axial hypotonia; no nystagmus;  ; difficult social contact; epileptic spasms during first year of life, myoclonic and tonic seizures; 27m-MRI-brain diffuse lobar hypoplasia, thin grey matter and simplified gyration, large ventricles, preserved U-fibres, delayed myelination, reduction of the bulk white matter, thin corpus callosum, hypoplastic cerebral peduncles" "" "" "" "" "" "" "" "" "DENNED" "neurodevelopmental delay" "" "0000296383" "05611" "00403688" "00006" "Familial, autosomal recessive" "05y" "5y-deceased; 4y weight 16.7kg (SD0.5), length 113cm (SD0), OFC 39cm (SD-8); microcephaly, sloping forehead, upslanting palpebral fissures, large ears; hearing loss; no congenital heart defect; ocular cataracts; profound psychomotor developmental delay; 2y-head control intermittent; not sitting; not walking; no speech; severe developmental delay/intellectual disability; dystonic tetraparesis; hypertonia; axial hypotonia; no nystagmus;  ; epileptic spasms during first year of life, myoclonic seizures evolving to generalised, refractory to therapy; 32m-MRI-brain diffuse lobar hypoplasia, simplified gyration, especially frontal, abnormal shape of hippocampi bilaterally, incomplete corpus callosum, dilated ventricles especially frontal; central precocious puberty (Tanner P3 at 5 years), accelerated bone age" "" "" "" "" "" "" "" "" "DENNED" "neurodevelopmental delay" "" "0000296384" "05611" "00403689" "00006" "Familial, autosomal recessive" "06y" "birth 40w, weight 3955g (SD+1.15), length 50cm (SD+0.20), OFC 35cm (SD+0.11); 6y weight 20kg (SD+0.5), length 97cm (SD-1.5), OFC 48cm (SD-2); microcephaly, large mouth, small widely spaced teeth; no hearing loss; no congenital heart defect; ocular cataracts, hyperopia, astigmatism; severe psychomotor developmental delay; head control normal; 16m-sit; 29m-walk; severe speech delay; severe developmental delay/intellectual disability;  ; no hypertonia; axial hypotonia; no nystagmus; stereotypies; restless, communication disorders, intolerance to frustration; no epilepsy; 17m-MRI brain normal" "" "" "" "" "" "" "" "" "DENNED" "neurodevelopmental delay" "" "0000345805" "07110" "00457342" "04459" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DENNED" "" "Dentici-Novelli neurodevelopmental syndrome (DENNED, OMIM#619877)" ## 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}}" "0000226742" "00225675" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362774" "00361546" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000404924" "00403685" "1" "00006" "00006" "2022-02-20 16:20:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404925" "00403686" "1" "00006" "00006" "2022-02-20 16:20:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404926" "00403687" "1" "00006" "00006" "2022-02-20 16:20:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404927" "00403688" "1" "00006" "00006" "2022-02-20 16:20:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404928" "00403689" "1" "00006" "00006" "2022-02-20 16:20:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458963" "00457342" "1" "04459" "04459" "2024-11-08 09:01:37" "" "" "SEQ-NG" "DNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000226742" "ZNF526" "0000362774" "ZNF526" "0000458963" "ZNF526" ## 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 = 14 "{{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}}" "0000313168" "0" "10" "19" "42728836" "42728836" "subst" "0.109256" "02325" "ZNF526_000001" "g.42728836T>C" "" "" "" "ZNF526(NM_133444.3):c.281T>C (p.V94A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42224684T>C" "" "benign" "" "0000459805" "3" "90" "19" "42729034" "42729034" "subst" "0" "00006" "ZNF526_000002" "g.42729034A>C" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42224882A>C" "" "pathogenic (recessive)" "" "0000567493" "0" "30" "19" "42729208" "42729208" "subst" "0" "01804" "DEDD2_000001" "g.42729208C>T" "" "" "" "ZNF526(NM_133444.1):c.653C>T (p.(Thr218Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42225056C>T" "" "likely benign" "" "0000567494" "0" "30" "19" "42729843" "42729843" "subst" "0" "01804" "GSK3A_000001" "g.42729843A>C" "" "" "" "ZNF526(NM_133444.1):c.1288A>C (p.(Thr430Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42225691A>C" "" "likely benign" "" "0000567496" "0" "30" "19" "42729864" "42729864" "subst" "0" "01804" "GSK3A_000003" "g.42729864G>C" "" "" "" "ZNF526(NM_133444.1):c.1309G>C (p.(Ala437Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42225712G>C" "" "likely benign" "" "0000763148" "3" "70" "19" "42729034" "42729034" "subst" "0" "00006" "ZNF526_000002" "g.42729034A>C" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.42224882A>C" "" "likely pathogenic" "ACMG" "0000840893" "3" "90" "19" "42730067" "42730068" "del" "4.0654E-6" "00006" "ZNF526_000005" "g.42730067_42730068del" "" "{PMID:Dentici 2022:33397746}" "" "" "" "Germline" "" "" "0" "" "" "g.42225915_42225916del" "" "pathogenic (recessive)" "" "0000840894" "3" "90" "19" "42730067" "42730068" "del" "4.0654E-6" "00006" "ZNF526_000005" "g.42730067_42730068del" "" "{PMID:Dentici 2022:33397746}" "" "" "" "Germline" "" "" "0" "" "" "g.42225915_42225916del" "" "pathogenic (recessive)" "" "0000840895" "3" "90" "19" "42729462" "42729463" "ins" "0" "00006" "ZNF526_000003" "g.42729462_42729463insT" "" "{PMID:Dentici 2022:33397746}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42225310_42225311insT" "" "pathogenic (recessive)" "" "0000840896" "3" "90" "19" "42729462" "42729463" "ins" "0" "00006" "ZNF526_000003" "g.42729462_42729463insT" "" "{PMID:Dentici 2022:33397746}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42225310_42225311insT" "" "pathogenic (recessive)" "" "0000840897" "3" "90" "19" "42729782" "42729782" "subst" "0" "00006" "ZNF526_000004" "g.42729782C>G" "" "{PMID:Dentici 2022:33397746}" "" "" "" "Germline" "" "" "0" "" "" "g.42225630C>G" "" "pathogenic (recessive)" "" "0001004810" "0" "30" "19" "42730536" "42730536" "subst" "6.95683E-5" "01804" "GSK3A_000005" "g.42730536G>A" "" "" "" "ZNF526(NM_133444.1):c.1981G>A (p.(Gly661Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016623" "0" "70" "19" "42729981" "42729981" "del" "0" "04459" "ZNF526_000007" "g.42729981del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42225829del" "" "pathogenic (recessive)" "ACMG" "0001016624" "21" "70" "19" "42730068" "42730068" "subst" "0" "04459" "ZNF526_000006" "g.42730068T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42225916T>C" "" "likely pathogenic (recessive)" "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 ZNF526 ## Count = 14 "{{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}}" "0000313168" "00023500" "10" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Val94Ala)" "" "0000459805" "00023500" "90" "479" "0" "479" "0" "c.479A>C" "r.(?)" "p.(Lys160Thr)" "" "0000567493" "00023500" "30" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Thr218Ile)" "" "0000567494" "00023500" "30" "1288" "0" "1288" "0" "c.1288A>C" "r.(?)" "p.(Thr430Pro)" "" "0000567496" "00023500" "30" "1309" "0" "1309" "0" "c.1309G>C" "r.(?)" "p.(Ala437Pro)" "" "0000763148" "00023500" "70" "479" "0" "479" "0" "c.479A>C" "r.(?)" "p.(Lys160Thr)" "" "0000840893" "00023500" "90" "1512" "0" "1513" "0" "c.1512_1513del" "r.(?)" "p.(Cys505TrpfsTer131)" "" "0000840894" "00023500" "90" "1512" "0" "1513" "0" "c.1512_1513del" "r.(?)" "p.(Cys505TrpfsTer131)" "" "0000840895" "00023500" "90" "907" "0" "908" "0" "c.907_908insT" "r.(?)" "p.(His303LeufsTer31)" "" "0000840896" "00023500" "90" "907" "0" "908" "0" "c.907_908insT" "r.(?)" "p.(His303LeufsTer31)" "" "0000840897" "00023500" "90" "1227" "0" "1227" "0" "c.1227C>G" "r.(?)" "p.(His409Gln)" "" "0001004810" "00023500" "30" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Arg)" "" "0001016623" "00023500" "70" "1426" "0" "1426" "0" "c.1426del" "r.(?)" "p.(Val476Phefs*9)" "" "0001016624" "00023500" "70" "1513" "0" "1513" "0" "c.1513T>C" "r.(?)" "p.(Cys505Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000226742" "0000459805" "0000362774" "0000763148" "0000404924" "0000840893" "0000404925" "0000840894" "0000404926" "0000840895" "0000404927" "0000840896" "0000404928" "0000840897" "0000458963" "0001016623" "0000458963" "0001016624"