### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZC4H2) # 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}}" "ZC4H2" "zinc finger, C4H2 domain containing" "X" "q11.1" "unknown" "NG_021200.2" "UD_134408533345" "" "https://www.LOVD.nl/ZC4H2" "" "1" "24931" "55906" "300897" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ZC4H2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-11-10 00:00:00" "00006" "2019-05-03 19:42:47" "00000" "2025-05-05 21:14:00" ## 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}}" "00023072" "ZC4H2" "transcript variant 1" "004" "NM_018684.3" "" "NP_061154.1" "" "" "" "-156" "2656" "675" "64196413" "64135682" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "05072" "WRWF" "Wieacker-Wolff syndrome (WRWF)" "XLR" "314580" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "06869" "WRWFFR" "Wieacker-Wolff syndrome, female-restricted" "AD" "301041" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZC4H2" "05072" "ZC4H2" "06869" ## Individuals ## Do not remove or alter this header ## ## Count = 44 "{{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}}" "00050669" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s), unaffected heterozygous carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050670" "" "" "00050669" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "sib2" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00173465" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183130" "" "" "" "6" "" "00006" "{PMID:Hirata 2013:23623388}, {PMID:Hu 2016:25644381}" "family, 6 affected males, 5 unaffected heterozygous carrier females" "M" "" "Germany" "" "0" "" "" "" "Family 1 / FamD139" "00183164" "" "" "" "4" "" "00006" "{PMID:Hirata 2013:23623388}, {PMID:Hu 2016:25644381}" "4-generation family, 2 affected males, 2 symptomatic heterozygous carrier female" "M" "" "France" "" "0" "" "" "" "Family 5 males / FamP195" "00234016" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam2" "00234017" "" "" "" "2" "" "03267" "Frints 2019, submitted" "family, 1 affected male, 1 affected female, healthy carrier mother (mosaic)" "F;M" "" "Netherlands" "" "0" "" "" "" "Fam3" "00234018" "" "" "" "1" "" "03267" "Frints 2019, submitted" "family, 1 affected male, healthy carrier mother" "M" "" "" "" "0" "" "" "" "Fam4" "00234019" "" "" "" "3" "" "03267" "Frints 2019, submitted" "family, 2 affected males, 1 mildly affected carrier female, 1 healthy carrier female" "F;M" "" "Netherlands" "" "0" "" "" "" "Fam5" "00234020" "" "" "" "2" "" "03267" "Frints 2019, submitted" "family, 1 affected (1M), 1 carrier mother very mildly affected" "F" "" "" "" "0" "" "" "" "Fam6" "00234021" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F;M" "" "" "" "0" "" "" "" "Fam7" "00234022" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam8" "00234023" "" "" "" "6" "" "03267" "Frints 2019, submitted" "family, 4 affected (4M), 5 heterozygous carrier female, 2 mildly affected" "F;M" "" "" "" "0" "" "" "" "Fam9" "00234024" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam10" "00234025" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam11" "00234026" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam12" "00234027" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam13" "00234028" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam14" "00234029" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam15" "00234030" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam16" "00234031" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam17" "00234032" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam18" "00234033" "" "" "" "1" "" "03267" "Frints 2019, submitted" "family, 1 affected, healthy carrier mother" "F" "" "" "" "0" "" "" "" "Fam19" "00234034" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam20" "00234035" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam21" "00234036" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam22" "00234037" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "F" "" "" "" "0" "" "" "" "Fam23" "00234038" "" "" "" "1" "" "03267" "Frints 2019, submitted" "" "M" "" "" "" "0" "" "" "" "Fam24" "00234040" "" "" "" "6" "" "00006" "{PMID:Hirata 2013:23623388}" "5-generation family, 5 affected males, 1 symptomatic heterozygous carrier female" "M" "" "Germany" "" "0" "" "" "" "Family 2-M" "00234041" "" "" "00234040" "1" "" "00006" "{PMID:Hirata 2013:23623388}" "heterozygous females" "F" "" "Germany" "" "0" "" "" "" "Family 2-F" "00234042" "" "" "" "12" "" "00006" "{PMID:Hirata 2013:23623388}" "4-generation family, 5 affected males, 7 symptomatic heterozygous carrier female" "M" "" "Netherlands" "" "0" "" "" "" "Family 3-M" "00234043" "" "" "00234042" "7" "" "00006" "{PMID:Hirata 2013:23623388}" "heterozygous females" "F" "" "Netherlands" "" "0" "" "" "" "Family 3-F" "00234044" "" "" "" "3" "" "00006" "{PMID:Hirata 2013:23623388}" "2-generation family, 2 affected males, 1 symptomatic heterozygous carrier female" "M" "" "Australia" "" "0" "" "" "" "Family 4-M" "00234045" "" "" "00234044" "1" "" "00006" "{PMID:Hirata 2013:23623388}" "heterozygous female" "F" "" "Australia" "" "0" "" "" "" "Family 4-F" "00234047" "" "" "00183164" "2" "" "00006" "{PMID:Hirata 2013:23623388}" "heterozygous females" "F" "" "France" "" "0" "" "" "" "Family 5-F" "00234048" "" "" "" "1" "" "00006" "{PMID:Hirata 2013:23623388}" "sporadic male patient" "M" "" "Germany" "" "0" "" "" "" "simplex case 1" "00234049" "" "" "" "1" "" "00006" "{PMID:Hirata 2013:23623388}" "heterozygous female" "F" "" "United States" "" "0" "" "" "" "simplex case 2" "00234050" "" "" "" "1" "" "00006" "{PMID:Hirata 2013:23623388}" "heterozygous female" "F" "" "Spain" "" "0" "" "" "" "simplex case 3" "00306143" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "79" "00307187" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D15-0320" "00307214" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D17-0141" "00307217" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D17-0639" "00416442" "" "" "" "1" "" "01164" "" "" "M" "-" "Germany" "" "0" "" "" "" "203065" "00442703" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat75" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00050669" "00198" "00050670" "00198" "00173465" "00187" "00183130" "00187" "00183164" "00187" "00234016" "05072" "00234017" "05072" "00234018" "05072" "00234019" "05072" "00234020" "05072" "00234021" "05072" "00234022" "05072" "00234023" "05072" "00234024" "05072" "00234025" "05072" "00234026" "05072" "00234027" "05072" "00234028" "05072" "00234029" "05072" "00234030" "05072" "00234031" "05072" "00234032" "05072" "00234033" "05072" "00234034" "05072" "00234035" "05072" "00234036" "05072" "00234037" "05072" "00234038" "05072" "00234040" "05072" "00234041" "05072" "00234042" "05072" "00234043" "05072" "00234044" "05072" "00234045" "05072" "00234047" "05072" "00234048" "05072" "00234049" "05072" "00234050" "05072" "00306143" "05072" "00307187" "00385" "00307214" "00385" "00307217" "00385" "00416442" "05072" "00442703" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 00385, 05072, 05618, 06869 ## Count = 44 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000037281" "00198" "00050669" "00006" "Unknown" "" "global developmental delay, talipes equinovarus, hypermetropia, stereotypic behavior" "" "" "" "" "" "" "" "" "" "" "" "" "0000037282" "00198" "00050670" "00006" "Unknown" "" "global developmental delay, talipes equinovarus, ptosis, generalized hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "0000138329" "00187" "00173465" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000143884" "00187" "00183130" "00006" "Familial, X-linked recessive" "27y-74y" "ong (flat) philtrum (HP:0000299) (1); ptosis (HP:0001488) (6); carp-shaped mouth (HP:0010806) (1); narrow shoulders or thorax (HP:0006664) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (6); distal muscle weakness (HP:0002460) (6); retardation of motor development (HP:0001263) (6); intellectual disability (HP:0001249) (6)" "" "" "" "" "" "" "" "" "" "WRWF" "intellectual disability, arthrogryposis multiplex congenita" "" "0000143918" "00187" "00183164" "00006" "Familial, X-linked recessive" "08y-28y" "dwarfism (HP:0001516) (1); oral motor dysfunction (HP:0005216) (2); low-set ears (HP:0000369) (1); ptosis (HP:0001488) (1); broad alveolar ridges (HP:0000187) (2); high-arched palate (HP:0000218) (2); carp-shaped mouth (HP:0010806) (2); drooling (HP:0002307) (2); short neck (with limited rotation) (HP:0000470) (1); narrow shoulders or thorax (HP:0006664) (1); poor feeding (HP:0002022) (1); short limbs (HP:0009826) (1); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (1); distal muscle weakness (HP:0002460) (2); ( (; retardation of motor development (HP:0001263) (2); intellectual disability (HP:0001249) (2); spasticity (HP:0001257) (1); seizures (HP:0001250) (2); MRI diffuse cerebral atrophy (HP:0002283) (1)" "" "" "" "" "" "" "" "" "" "WRWF" "intellectual disability, arthrogryposis multiplex congenita" "" "0000174438" "05072" "00234016" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174439" "05072" "00234017" "03267" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174440" "05072" "00234018" "03267" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174441" "05072" "00234019" "03267" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174442" "05072" "00234020" "03267" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174443" "05072" "00234021" "03267" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174444" "05072" "00234022" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174445" "05072" "00234023" "03267" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174446" "05072" "00234024" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174447" "05072" "00234025" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174448" "05072" "00234026" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174449" "05072" "00234027" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174450" "05072" "00234028" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174451" "05072" "00234029" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174452" "05072" "00234030" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174453" "05072" "00234031" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174454" "05072" "00234032" "03267" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174455" "05072" "00234033" "03267" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174456" "05072" "00234034" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174457" "05072" "00234035" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174458" "05072" "00234036" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174459" "05072" "00234037" "03267" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174460" "05072" "00234038" "03267" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "ZARD" "" "0000174462" "05072" "00234040" "00006" "Familial, X-linked recessive" "" "dwarfism (HP:0001516) (2); long (flat) philtrum (HP:0000299) (2); oral motor dysfunction (HP:0005216) (1); low-set ears (HP:0000369) (2); ptosis (HP:0001488) (3); upturned nares (HP:0000463) (2); high-arched palate (HP:0000218) (2); carp-shaped mouth (HP:0010806) (2); drooling (HP:0002307) (3); short neck (with limited rotation) (HP:0000470) (2); neonatal respiratory distress (HP:0002643) (3); humeroscapular mobility restriction (HP:0006467) (2); narrow shoulders or thorax (HP:0006664) (3); poor feeding (HP:0002022) (4); kyphosis, lordosis or scoliosis (HP:0002751) (3); congenital hip dislocations or hip flexion contractures (HP:0001374) (4); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (3); proximally placed thumbs (HP:0009623) (2); camptodactyly (HP:0001215) (5); ulnar deviation finger (HP:0009465) (3); proximally placed toes (HP:0001780) (4); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (5); high anterior hairline (HP:0000294) (2); distal muscle weakness (HP:0002460) (2); edema or fat pads (hands and/or feet) (HP:0007514) (3); retardation of motor development (HP:0001263) (5); intellectual disability (HP:0001249) (5); spasticity (HP:0001257) (5); seizures (HP:0001250) (4); MRI delayed myelination (HP:0002188) (2); MRI diffuse cerebral atrophy (HP:0002283) (3)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174463" "05072" "00234041" "00006" "Familial, X-linked recessive" "" "equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174464" "05072" "00234042" "00006" "Familial, X-linked recessive" "" "dwarfism (HP:0001516) (1); long (flat) philtrum (HP:0000299) (5); ptosis (HP:0001488) (1); upturned nares (HP:0000463) (5); broad alveolar ridges (HP:0000187) (5); high-arched palate (HP:0000218) (5); carp-shaped mouth (HP:0010806) (5); short neck (with limited rotation) (HP:0000470) (1); neonatal respiratory distress (HP:0002643) (5); humeroscapular mobility restriction (HP:0006467) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); congenital hip dislocations or hip flexion contractures (HP:0001374) (2); short limbs (HP:0009826) (2); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (2); proximally placed thumbs (HP:0009623) (1); camptodactyly (HP:0001215) (2); ulnar deviation finger (HP:0009465) (1); proximally placed toes (HP:0001780) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (2); high anterior hairline (HP:0000294) (5); edema or fat pads (hands and/or feet) (HP:0007514) (1); retardation of motor development (HP:0001263) (1); intellectual disability (HP:0001249) (1); seizures (HP:0001250) (1); MRI delayed myelination (HP:0002188) (1)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174465" "05072" "00234043" "00006" "Familial, X-linked recessive" "" "urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (3); intellectual disability (HP:0001249) (3); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (3); camptodactyly (HP:0001215) (5)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174466" "05072" "00234044" "00006" "Familial, X-linked recessive" "" "drooling (HP:0002307) (2); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (2); retardation of motor development (HP:0001263) (2); intellectual disability (HP:0001249) (2); spasticity (HP:0001257) (2); seizures (HP:0001250) (1);" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174467" "05072" "00234045" "00006" "Familial, X-linked recessive" "" "intellectual disability (HP:0001249) (1)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174469" "05072" "00234047" "00006" "Familial, X-linked recessive" "" "intellectual disability (HP:0001249) (2)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174470" "05072" "00234048" "00006" "Isolated (sporadic)" "03y10m" "dwarfism (HP:0001516) (1); long (flat) philtrum (HP:0000299) (1); oral motor dysfunction (HP:0005216) (1); low-set ears (HP:0000369) (1); ptosis (HP:0001488) (1); upturned nares (HP:0000463) (1); broad alveolar ridges (HP:0000187) (1); high-arched palate (HP:0000218) (1); carp-shaped mouth (HP:0010806) (1); drooling (HP:0002307) (1); short neck (with limited rotation) (HP:0000470) (1); neonatal respiratory distress (HP:0002643) (1); humeroscapular mobility restriction (HP:0006467) (1); narrow shoulders or thorax (HP:0006664) (1); poor feeding (HP:0002022) (1); kyphosis, lordosis or scoliosis (HP:0002751) (1); congenital hip dislocations or hip flexion contractures (HP:0001374) (1); short limbs (HP:0009826) (1); flexion contractures of elbows or knees (HP:0002987, HP:0002978) (1); proximally placed thumbs (HP:0009623) (1); camptodactyly (HP:0001215) (1); ulnar deviation finger (HP:0009465) (1); proximally placed toes (HP:0001780) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); high anterior hairline (HP:0000294) (1); distal muscle weakness (HP:0002460) (1); edema or fat pads (hands and/or feet) (HP:0007514) (1); retardation of motor development (HP:0001263) (1); intellectual disability (HP:0001249) (1); spasticity (HP:0001257) (1); seizures (HP:0001250) (1); MRI delayed myelination (HP:0002188) (1); MRI diffuse cerebral atrophy (HP:0002283) (1)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174471" "05072" "00234049" "00006" "Isolated (sporadic)" "9y" "urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (1); intellectual disability (HP:0001249) (1); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); camptodactyly (HP:0001215) (1)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000174472" "05072" "00234050" "00006" "Isolated (sporadic)" "13y" "urine incontinence (HP:0000020) (1); distal muscle weakness (HP:0002460) (1); intellectual disability (HP:0001249) (1); dysarthria and/or deficit in expressive language (HP:0001260) (1); equinovarus feet or contracture of Achilles tendon (HP:0008110, HP:0001771) (1); camptodactyly (HP:0001215) (1)" "" "" "" "" "" "" "" "" "" "WRWF" "arthrogryposis multiplex congenita, intellectual disability" "" "0000231987" "05072" "00306143" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232992" "00385" "00307187" "00534" "Isolated (sporadic)" "" "distal arthrogryposis; rocker bottom foot; hip contracture; amyoplasia" "" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233019" "00385" "00307214" "00534" "Unknown" "" "distal arthrogryposis; abnormality extraocular muscles" "" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233022" "00385" "00307217" "00534" "Unknown" "" "distal arthrogryposis; weakness of facial musculature; ptosis; keratosis pilaris; sleep apnea; atrial septal defect; dilatation renal pelvis" "" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000308162" "05072" "00416442" "01164" "Unknown" "" "Global developmental delay, Expressive language delay, Hypotonia, Mild microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "0000332050" "05618" "00442703" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Foetal hypokinesia and contractures" "" ## Screenings ## Do not remove or alter this header ## ## Count = 44 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050614" "00050669" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050615" "00050670" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000174348" "00173465" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000184088" "00183130" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184122" "00183164" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000235115" "00234016" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235116" "00234017" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235117" "00234018" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235118" "00234019" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235119" "00234020" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235120" "00234021" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235121" "00234022" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235122" "00234023" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235123" "00234024" "1" "03267" "00006" "2019-05-03 17:02:35" "00006" "2019-05-27 12:31:21" "arrayCGH" "DNA" "" "" "0000235124" "00234025" "1" "03267" "00006" "2019-05-03 17:02:35" "00006" "2019-05-27 12:31:56" "arrayCGH" "DNA" "" "" "0000235125" "00234026" "1" "03267" "00006" "2019-05-03 17:02:35" "00006" "2019-05-27 12:32:24" "arrayCGH" "DNA" "" "" "0000235126" "00234027" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235127" "00234028" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235128" "00234029" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235129" "00234030" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235130" "00234031" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235131" "00234032" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235132" "00234033" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235133" "00234034" "1" "03267" "00006" "2019-05-03 17:02:35" "00006" "2019-05-27 12:32:45" "arrayCGH" "DNA" "" "" "0000235134" "00234035" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235135" "00234036" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235136" "00234037" "1" "03267" "00006" "2019-05-03 17:02:35" "00006" "2019-05-27 12:33:05" "arrayCGH" "DNA" "" "" "0000235137" "00234038" "1" "03267" "00006" "2019-05-03 17:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000235139" "00234040" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235140" "00234041" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235141" "00234042" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235142" "00234043" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235143" "00234044" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235144" "00234045" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235146" "00234047" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235147" "00234048" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235148" "00234049" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000235149" "00234050" "1" "00006" "00006" "2019-05-04 10:03:34" "" "" "SEQ" "DNA" "" "" "0000307273" "00306143" "1" "03695" "03695" "2020-07-08 21:57:44" "" "" "SEQ-NG" "DNA" "" "" "0000308329" "00307187" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308356" "00307214" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308359" "00307217" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000417721" "00416442" "1" "01164" "01164" "2022-08-31 10:05:36" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000444187" "00442703" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000050614" "ZC4H2" "0000174348" "CT45A5" "0000184088" "ZC4H2" "0000184122" "ZC4H2" "0000235115" "ZC4H2" "0000235116" "ZC4H2" "0000235117" "ZC4H2" "0000235118" "ZC4H2" "0000235119" "ZC4H2" "0000235120" "ZC4H2" "0000235121" "ZC4H2" "0000235122" "ZC4H2" "0000235123" "ZC4H2" "0000235124" "ZC4H2" "0000235125" "ZC4H2" "0000235126" "ZC4H2" "0000235127" "ZC4H2" "0000235128" "ZC4H2" "0000235129" "ZC4H2" "0000235130" "ZC4H2" "0000235131" "ZC4H2" "0000235132" "ZC4H2" "0000235133" "ZC4H2" "0000235134" "ZC4H2" "0000235135" "ZC4H2" "0000235136" "ZC4H2" "0000235137" "ZC4H2" "0000235139" "ZC4H2" "0000235140" "ZC4H2" "0000235141" "ZC4H2" "0000235142" "ZC4H2" "0000235143" "ZC4H2" "0000235144" "ZC4H2" "0000235146" "ZC4H2" "0000235147" "ZC4H2" "0000235148" "ZC4H2" "0000235149" "ZC4H2" "0000307273" "ZC4H2" "0000308329" "ZC4H2" "0000308356" "ZC4H2" "0000308359" "ZC4H2" "0000417721" "ZC4H2" ## 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 = 64 "{{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}}" "0000079594" "21" "90" "X" "64141712" "64141712" "subst" "0" "00006" "ZC4H2_000001" "g.64141712G>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.64921832G>T" "" "pathogenic" "" "0000079595" "21" "90" "X" "64141712" "64141712" "subst" "0" "00006" "ZC4H2_000001" "g.64141712G>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.64921832G>T" "" "pathogenic" "" "0000341258" "0" "70" "X" "64137740" "64137740" "subst" "0" "02327" "ZC4H2_000002" "g.64137740C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64917860C>T" "" "likely pathogenic" "" "0000342182" "0" "70" "X" "64137745" "64137745" "subst" "0" "02327" "ZC4H2_000003" "g.64137745C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64917865C>T" "" "likely pathogenic" "" "0000343241" "0" "90" "X" "64141723" "64141723" "subst" "0" "02327" "ZC4H2_000006" "g.64141723G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64921843G>A" "" "pathogenic" "" "0000350763" "0" "90" "X" "64140135" "64140135" "subst" "0" "02327" "ZC4H2_000005" "g.64140135T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64920255T>C" "" "pathogenic" "" "0000401357" "1" "50" "X" "64137701" "64137701" "subst" "0" "00124" "ZC4H2_000007" "g.64137701G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R213W" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.64917821G>A" "" "VUS" "" "0000408057" "21" "90" "X" "64141735" "64141735" "subst" "0" "00006" "ZC4H2_000008" "g.64141735C>G" "" "{PMID:Hirata 2013:23623388}, {PMID:Hu 2016:25644381}" "" "ZC4H2 V63L" "" "Germline" "yes" "" "0" "" "" "g.64921855C>G" "" "pathogenic (recessive)" "" "0000408091" "21" "90" "X" "64137701" "64137701" "subst" "0" "00006" "ZC4H2_000007" "g.64137701G>A" "" "{PMID:Hirata 2013:23623388}, {PMID:Hu 2016:25644381}" "" "ZC4H2 R190W" "" "Germline" "yes" "" "0" "" "" "g.64917821G>A" "" "pathogenic" "" "0000477863" "0" "90" "X" "64141695" "64141695" "subst" "0" "03267" "ZC4H2_000022" "g.64141695A>G" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "skewed X-inactivation" "" "g.64921815A>G" "" "pathogenic (recessive)" "" "0000477864" "0" "90" "X" "64140085" "64140086" "del" "0" "03267" "ZC4H2_000004" "g.64140085_64140086del" "" "Frints 2019, submitted" "" "" "" "Germline" "" "" "0" "random X-inactivation" "" "g.64920205_64920206del" "" "pathogenic (recessive)" "" "0000477865" "0" "90" "X" "64137745" "64137745" "subst" "0" "03267" "ZC4H2_000003" "g.64137745C>T" "" "Frints 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.64917865C>T" "" "pathogenic (recessive)" "" "0000477866" "0" "90" "X" "64137740" "64137740" "subst" "0" "03267" "ZC4H2_000002" "g.64137740C>T" "" "Frints 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.64917860C>T" "" "pathogenic (recessive)" "" "0000477867" "0" "90" "X" "64137739" "64137739" "subst" "0" "03267" "ZC4H2_000017" "g.64137739G>A" "" "Frints 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.64917859G>A" "" "pathogenic (recessive)" "" "0000477868" "0" "90" "X" "64137737" "64137737" "subst" "0" "03267" "ZC4H2_000016" "g.64137737G>A" "" "Frints 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.64917857G>A" "" "pathogenic (recessive)" "" "0000477869" "0" "90" "X" "64137721" "64137721" "subst" "0" "03267" "ZC4H2_000013" "g.64137721C>A" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.64917841C>A" "" "pathogenic (recessive)" "" "0000477870" "0" "90" "X" "64137688" "64137688" "subst" "0" "03267" "ZC4H2_000012" "g.64137688T>C" "" "Frints 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.64917808T>C" "" "pathogenic (recessive)" "" "0000477871" "0" "90" "X" "64186618" "64267316" "del" "0" "03267" "ZC4H2_000011" "g.(?_64186618)_(64267316_?)del" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000477872" "0" "90" "X" "" "" "" "" "03267" "ZC4H2_000011" "g.(_64166588)_(64361318_?)del" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000477873" "0" "90" "X" "64192739" "64528227" "del" "0" "03267" "ZC4H2_000011" "g.(?_64192739)_(64528227_?)del" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000477874" "0" "90" "X" "64139032" "64139032" "del" "0" "03267" "ZC4H2_000018" "g.64139032del" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "skewed X-inactivation" "" "g.64919152del" "" "pathogenic (recessive)" "" "0000477875" "0" "90" "X" "64139057" "64139057" "subst" "0" "03267" "ZC4H2_000019" "g.64139057C>T" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.64919177C>T" "" "pathogenic (recessive)" "" "0000477876" "0" "90" "X" "64137731" "64137731" "subst" "0" "03267" "ZC4H2_000014" "g.64137731A>T" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.64917851A>T" "" "pathogenic (recessive)" "" "0000477877" "0" "90" "X" "64141855" "64141855" "subst" "0" 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"0" "90" "X" "64140134" "64140134" "subst" "0" "03267" "ZC4H2_000021" "g.64140134C>A" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "skewed X-inactivation" "" "g.64920254C>A" "" "pathogenic (recessive)" "" "0000477883" "0" "90" "X" "64140116" "64140119" "del" "0" "03267" "ZC4H2_000020" "g.64140116_64140119del" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.64920236_64920239del" "" "pathogenic (recessive)" "" "0000477884" "0" "90" "X" "64170839" "64414573" "del" "0" "03267" "ZC4H2_000011" "g.(?_64170839)_(64414573_?)del" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000477885" "0" "90" "X" "64137745" "64137745" "subst" "0" "03267" "ZC4H2_000003" "g.64137745C>T" "" "Frints 2019, submitted" "" "" "" "De novo" "" "" "0" "" "" "g.64917865C>T" "" "pathogenic (recessive)" "" "0000477887" "21" "90" "X" "64137745" "64137745" "subst" "0" "00006" "ZC4H2_000003" "g.64137745C>T" "" "{PMID:Hirata 2013:23623388}" "" "" 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"g.(63900000_64049596)_(64370757_64400000)del" "" "{PMID:Hirata 2013:23623388}" "" "del 64,049,596–64,370,757" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000576923" "0" "90" "X" "64137746" "64137746" "subst" "0" "02329" "ZC4H2_000025" "g.64137746G>A" "" "" "" "ZC4H2(NM_001178032.3):c.523C>T (p.R175W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64917866G>A" "" "pathogenic" "" "0000576924" "0" "50" "X" "64141699" "64141699" "subst" "0" "01943" "ZC4H2_000026" "g.64141699C>T" "" "" "" "ZC4H2(NM_001178032.2):c.154G>A (p.V52M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64921819C>T" "" "VUS" "" "0000576925" "0" "30" "X" "64141699" "64141699" "subst" "0" "02327" "ZC4H2_000026" "g.64141699C>T" "" "" "" "ZC4H2(NM_001178032.2):c.154G>A (p.V52M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64921819C>T" "" "likely benign" "" "0000576926" "0" "70" "X" "64141761" "64141761" "subst" "0" "02327" "ZC4H2_000027" "g.64141761A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64921881A>G" "" "likely pathogenic" "" "0000619762" "0" "70" "X" "64137746" "64137746" "subst" "0" "02327" "ZC4H2_000025" "g.64137746G>A" "" "" "" "ZC4H2(NM_001178032.3):c.523C>T (p.R175W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64917866G>A" "" "likely pathogenic" "" "0000619763" "0" "50" "X" "64138936" "64138936" "subst" "0" "02327" "ZC4H2_000029" "g.64138936G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64919056G>T" "" "VUS" "" "0000619764" "0" "50" "X" "64139985" "64139985" "subst" "0" "01804" "ZC4H2_000030" "g.64139985T>C" "" "" "" "ZC4H2(NM_001178032.2):c.305A>G (p.(Glu102Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64920105T>C" "" "VUS" "" "0000673868" "0" "70" "X" "64140007" "64140007" "subst" "0" "03695" "ZC4H2_000031" "g.64140007G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "g.64920127G>A" "" "likely pathogenic" "" "0000675287" "0" "70" "X" "64139085" "64139085" "subst" "0" "00534" "ZC4H2_000033" "g.64139085C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "NM_015117:c.399-1G>A" "" "De novo" "" "" "0" "" "" "g.64919205C>T" "" "likely pathogenic (dominant)" "ACMG" "0000675314" "0" "70" "X" "64137737" "64137737" "subst" "0" "00534" "ZC4H2_000032" "g.64137737G>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "NM_015117:c.601C>A" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.64917857G>T" "" "likely pathogenic" "ACMG" "0000675317" "0" "70" "X" "64196204" "64196204" "subst" "0" "00534" "ZC4H2_000034" "g.64196204C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "NM_015117:c.53+1G>A" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.64976324C>T" "" "likely pathogenic" "ACMG" "0000693688" "0" "50" "X" "64141701" "64141701" "subst" "0" "02325" "ZC4H2_000035" "g.64141701T>C" "" "" "" "ZC4H2(NM_018684.4):c.221A>G (p.N74S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810585" "0" "30" "X" "64137746" "64137746" "subst" "0.000314343" "01943" "ZC4H2_000036" "g.64137746G>T" "" "" "" "ZC4H2(NM_001178032.2):c.523C>A (p.R175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856728" "0" "30" "X" "64140107" "64140107" "subst" "0" "01943" "ZC4H2_000038" "g.64140107C>T" "" "" "" "ZC4H2(NM_001178032.2):c.183G>A (p.E61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867497" "0" "50" "X" "64138984" "64138984" "subst" "0.000209935" "01943" "ZC4H2_000037" "g.64138984C>G" "" "" "" "ZC4H2(NM_001178032.2):c.430G>C (p.V144L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000877446" "0" "70" "X" "64137707" "64137707" "subst" "0" "01164" "ZC4H2_000039" "g.64137707G>A" "" "{PMID:[Ma 2017]:[28814648]}" "" "" "ACMG: PS4_MOD, PM1, PM2_SUP, PP3" "Germline" "" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000946044" "21" "90" "X" "64140085" "64140086" "del" "0" "00006" "ZC4H2_000004" "g.64140085_64140086del" "" "{PMID:Westra 2019:31127727}" "" "" "0.10 mosaic in healthy mother" "Germline" "" "" "0" "" "" "g.64920205_64920206del" "" "pathogenic" "" "0000971249" "0" "50" "X" "64138956" "64138956" "subst" "0" "02325" "ZC4H2_000040" "g.64138956G>A" "" "" "" "ZC4H2(NM_018684.4):c.527C>T (p.T176M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984802" "0" "50" "X" "64207344" "64207344" "subst" "0" "01804" "ZC4H2_000041" "g.64207344G>T" "" "" "" "ZC4H2(NM_001178032.3):c.-272+47165C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044442" "0" "50" "X" "64141755" "64141755" "subst" "0" "01804" "ZC4H2_000042" "g.64141755A>G" "" "" "" "ZC4H2(NM_018684.4):c.167T>C (p.(Leu56Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044443" "0" "30" "X" "64148509" "64148509" "subst" "0" "01804" "ZC4H2_000043" "g.64148509T>C" "" "" "" "ZC4H2(NM_018684.4):c.54-6641A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044444" "0" "50" "X" "64222522" "64222522" "subst" "0" "01804" "ZC4H2_000044" "g.64222522G>C" "" "" "" "ZC4H2(NM_001178032.3):c.-272+31987C>G" "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 ZC4H2 ## Count = 64 "{{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}}" "0000079594" "00023072" "90" "210" "0" "210" "0" "c.210C>A" "r.(?)" "p.(His70Gln)" "" "0000079595" "00023072" "90" "210" "0" "210" "0" "c.210C>A" "r.(?)" "p.(His70Gln)" "" "0000341258" "00023072" "70" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Ala200Thr)" "" "0000342182" "00023072" "70" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "" "0000343241" "00023072" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Ter)" "" "0000350763" "00023072" "90" "226" "-2" "226" "-2" "c.226-2A>G" "r.spl?" "p.?" "" "0000401357" "00023072" "50" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "5" "0000408057" "00023072" "90" "187" "0" "187" "0" "c.187G>C" "r.(?)" "p.(Val63Leu)" "2" "0000408091" "00023072" "90" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "5" "0000477863" "00023072" "90" "225" "2" "225" "2" "c.225+2T>C" "r.spl" "p.?" "" "0000477864" "00023072" "90" "275" "0" "276" "0" "c.275_276del" "r.(?)" "p.(Glu92Valfs*7)" "" "0000477865" "00023072" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "" "0000477866" "00023072" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Ala200Thr)" "" "0000477867" "00023072" "90" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Ala200Val)" "" "0000477868" "00023072" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Pro201Ser)" "" "0000477869" "00023072" "90" "617" "0" "617" "0" "c.617G>T" "r.(?)" "p.(Cys206Phe)" "" "0000477870" "00023072" "90" "650" "0" "650" "0" "c.650A>G" "r.(?)" "p.(Lys217Arg)" "" "0000477871" "00023072" "90" "-56" "0" "53" "1" "c.-56_(53+1_54-1)del" "r.0?" "p.0?" "_1_1i" "0000477872" "00023072" "90" "-56" "0" "53" "1" "c.-56_(53+1_54-1)del" "r.0?" "p.0?" "_1_1i" "0000477873" "00023072" "90" "-56" "0" "53" "1" "c.-56_(53+1_54-1)del" "r.0?" "p.0?" "_1_1i" "0000477874" "00023072" "90" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Ile151Serfs*36)" "" "0000477875" "00023072" "90" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Trp142*)" "" "0000477876" "00023072" "90" "607" "0" "607" "0" "c.607T>A" "r.(?)" "p.(Cys203Ser)" "" "0000477877" "00023072" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Gln23*)" "" "0000477878" "00023072" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67*)" "" "0000477879" "00023072" "90" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "" "0000477880" "00023072" "90" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Pro201His)" "" "0000477881" "00023072" "90" "-56" "0" "53" "1" "c.-56_(53+1_54-1)del" "r.0?" "p.0?" "_1_1i" "0000477882" "00023072" "90" "226" "-1" "226" "-1" "c.226-1G>T" "r.spl" "p.?" "" "0000477883" "00023072" "90" "243" "0" "246" "0" "c.243_246del" "r.(?)" "p.(Lys81Asnfs*6)" "" "0000477884" "00023072" "90" "-56" "0" "53" "1" "c.-56_(53+1_54-1)del" "r.0?" "p.0?" "_1_1i" "0000477885" "00023072" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "" "0000477887" "00023072" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "5" "0000477888" "00023072" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Gln)" "5" "0000477889" "00023072" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Pro201Ser)" "5" "0000477890" "00023072" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Pro201Ser)" "5" "0000477891" "00023072" "90" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "5" "0000477892" "00023072" "90" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "5" "0000477894" "00023072" "90" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Trp)" "5" "0000477895" "00023072" "90" "-156" "0" "53" "1" "c.-156_(53+1_?)inv" "r.0" "p.0" "_1_1i_" "0000477896" "00023072" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_5_" "0000477897" "00023072" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_5_" "0000576923" "00023072" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Trp)" "" "0000576924" "00023072" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Met)" "" "0000576925" "00023072" "30" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Met)" "" "0000576926" "00023072" "70" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Leu54Pro)" "" "0000619762" "00023072" "70" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Trp)" "" "0000619763" "00023072" "50" "547" "0" "547" "0" "c.547C>A" "r.(?)" "p.(Pro183Thr)" "" "0000619764" "00023072" "50" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Glu125Gly)" "" "0000673868" "00023072" "70" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Gln118*)" "" "0000675287" "00023072" "70" "399" "-1" "399" "-1" "c.399-1G>A" "r.spl" "p.?" "" "0000675314" "00023072" "70" "601" "0" "601" "0" "c.601C>A" "r.(?)" "p.(Pro201Thr)" "" "0000675317" "00023072" "70" "53" "1" "53" "1" "c.53+1G>A" "r.spl" "p.?" "" "0000693688" "00023072" "50" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Asn74Ser)" "" "0000810585" "00023072" "30" "592" "0" "592" "0" "c.592C>A" "r.(?)" "p.(Arg198=)" "" "0000856728" "00023072" "30" "252" "0" "252" "0" "c.252G>A" "r.(?)" "p.(Glu84=)" "" "0000867497" "00023072" "50" "499" "0" "499" "0" "c.499G>C" "r.(?)" "p.(Val167Leu)" "" "0000877446" "00023072" "70" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Trp)" "" "0000946044" "00023072" "90" "275" "0" "276" "0" "c.275_276del" "r.(?)" "p.(Glu92ValfsTer7)" "" "0000971249" "00023072" "50" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Thr176Met)" "" "0000984802" "00023072" "50" "-11087" "0" "-11087" "0" "c.-11087C>A" "r.(?)" "p.(=)" "" "0001044442" "00023072" "50" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Leu56Pro)" "" "0001044443" "00023072" "30" "54" "-6641" "54" "-6641" "c.54-6641A>G" "r.(=)" "p.(=)" "" "0001044444" "00023072" "50" "-26265" "0" "-26265" "0" "c.-26265C>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000050614" "0000079594" "0000050615" "0000079595" "0000174348" "0000401357" "0000184088" "0000408057" "0000184122" "0000408091" "0000235115" "0000477863" "0000235116" "0000477864" "0000235117" "0000477865" "0000235118" "0000477866" "0000235119" "0000477867" "0000235120" "0000477868" "0000235121" "0000477869" "0000235122" "0000477870" "0000235123" "0000477871" "0000235124" "0000477872" "0000235125" "0000477873" "0000235126" "0000477874" "0000235127" "0000477875" "0000235128" "0000477876" "0000235129" "0000477877" "0000235130" "0000477878" "0000235131" "0000477879" "0000235132" "0000477880" "0000235133" "0000477881" "0000235134" "0000477882" "0000235135" "0000477883" "0000235136" "0000477884" "0000235137" "0000477885" "0000235139" "0000477887" "0000235140" "0000477888" "0000235141" "0000477889" "0000235142" "0000477890" "0000235143" "0000477891" "0000235144" "0000477892" "0000235146" "0000477894" "0000235147" "0000477895" "0000235148" "0000477896" "0000235149" "0000477897" "0000307273" "0000673868" "0000308329" "0000675287" "0000308356" "0000675314" "0000308359" "0000675317" "0000417721" "0000877446" "0000444187" "0000946044"