### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GATAD2B) # 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}}" "GATAD2B" "GATA zinc finger domain containing 2B" "1" "q21.3" "unknown" "NG_050988.1" "UD_132586063068" "" "https://www.LOVD.nl/GATAD2B" "" "1" "30778" "57459" "614998" "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/GATAD2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-14 12:09:00" "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}}" "00008374" "GATAD2B" "GATA zinc finger domain containing 2B" "001" "NM_020699.2" "" "NP_065750.1" "" "" "" "-244" "7234" "1782" "153895451" "153777201" "" "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}}" "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" "00842" "GAND;MRD18" "GAND syndrome (GAND, MRD18)" "AD" "615074" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05532" "MRD" "mental retardation, autosomal dominant (MRD, intellectual disability (IDD))" "" "" "" "autosomal dominant" "" "00006" "2018-12-18 09:20:18" "00006" "2018-12-18 09:24:21" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GATAD2B" "00139" "GATAD2B" "00842" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00080965" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00180938" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00183066" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio69" "00245887" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00246694" "" "" "" "1" "" "01238" "{PMID:Vera 2020:32688057}" "" "F" "no" "Italy;(Italy)" "" "1" "" "" "Italian" "P18" "00299687" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00302766" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "F" "" "Canada" "" "0" "" "" "" "1907.666" "00315903" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P1" "00315904" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P2" "00315905" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P3" "00315906" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "F" "" "France" "" "0" "" "" "white" "P4" "00315907" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P5" "00315908" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P6" "00315909" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "F" "" "France" "" "0" "" "" "white" "P7" "00315910" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P8" "00315911" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P9" "00315912" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P10" "00315913" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "white" "P11" "00315914" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "F" "" "Germany" "" "0" "" "" "white" "P12" "00315915" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "P13" "00315916" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "Belgium" "" "0" "" "" "Bakhtiari-Iran" "P14" "00315917" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "F" "" "France" "" "0" "" "" "white" "P15" "00315918" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "F" "" "Germany" "" "0" "" "" "" "P16" "00315919" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "F" "" "Germany" "" "0" "" "" "" "P17" "00315920" "" "" "" "1" "" "00006" "{PMID:Vera 2020:32688057}" "" "M" "" "France" "" "0" "" "" "Madagascar Malagasy" "P19" "00320167" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00334590" "" "" "" "12" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334591" "" "" "" "9" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334592" "" "" "" "9" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00361511" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "14DG0271" "00361924" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "151741" "00440370" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2139.1" "00457920" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00080965" "00842" "00180938" "00198" "00183066" "00139" "00245887" "00198" "00246694" "00842" "00299687" "00198" "00302766" "00139" "00315903" "05611" "00315904" "05611" "00315905" "05611" "00315906" "05611" "00315907" "05611" "00315908" "05611" "00315909" "05611" "00315910" "05611" "00315911" "05611" "00315912" "05611" "00315913" "05611" "00315914" "05611" "00315915" "05611" "00315916" "05611" "00315917" "05611" "00315918" "05611" "00315919" "05611" "00315920" "05611" "00320167" "00198" "00334590" "04214" "00334591" "04214" "00334592" "04214" "00361511" "00139" "00361924" "05532" "00440370" "00198" "00457920" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00842, 04214, 05532, 05611 ## Count = 30 "{{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}}" "0000060534" "00842" "00080965" "01758" "Isolated (sporadic)" "" "Mental retardation, autosomal dominant 18 (OMIM:615074)" "" "" "" "" "" "" "" "" "" "" "" "" "0000143209" "00198" "00180938" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Language impairment (HP:0002463)" "" "" "" "" "" "" "" "" "" "" "" "" "0000143819" "00139" "00183066" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000185723" "00198" "00245887" "01807" "Unknown" "" "HP:0000256 (Macrocephaly)" "" "" "" "" "" "" "" "" "" "" "" "" "0000186538" "00842" "00246694" "01238" "Isolated (sporadic)" "" "birth 41+2w; birth weight 4000g, length 54.5cm, OFC 37cm; weight +1.5 SD, height 2 SD, OFC +3.4 SD; no neonatal hypotonia; global developmental delay (HP:0001263); motor delay; 14m-sit; 22m-walk; speech delay (HP:0002463); 18m-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; no strabismus; MRI brain abnormalities, white matter signal, myelination delay, ventriculomegaly enlarged CSF space; macrocephaly (HP:0000256); dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes (HP:0000490); hypertelorism; periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth (HP:0000154); no downturned mouth; thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; long fingers; no clinodactyly; ataxia (HP:0001251); dystonia (HP:0001332)" "" "" "14y" "" "" "" "" "" "" "GAND" "HP:0002342 Intellectual disability, moderate" "" "0000226992" "00198" "00299687" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Echogenic intracardiac focus (HP:0010942); Macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "" "" "0000229848" "00139" "00302766" "00006" "Isolated (sporadic)" "5y" "severe intellectual disability; no speech; walk-22m; epilepsy; no autistic features; no microcephaly; no macrocephaly; MRI brain myelination delay; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; dysmorphic features (epicanthal fold, prognathism, widely spaced teeth)" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000239649" "05611" "00315903" "00006" "Isolated (sporadic)" "4y" "birth 39w; birth weight 2830g, length 50cm, OFC 35.5cm; weight 2 SD, height +1.5 SD, OFC +2.5 SD; no neonatal hypotonia; motor delay; 10m-sit; 24m-walk; speech delay; 2.5y-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; pointed chin; blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly" "" "" "5y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239650" "05611" "00315904" "00006" "Isolated (sporadic)" "28y" "birth 40w; birth weight 3100g, length 50cm, OFC 37.5cm; weight 1 SD, height −1 SD, OFC +3.5 SD; no neonatal hypotonia; motor delay; 24m-walk; speech delay; severe intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; no vision disorder; no strabismus; MRI brain no abnormalities, no white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; downturned mouth; no thin upper lip; no blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "30y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239651" "05611" "00315905" "00006" "Isolated (sporadic)" "10y" "birth 38w; birth weight 3580g, length 50cm, OFC 36cm; weight −1 SD, height −1 SD, OFC 3 SD; no neonatal hypotonia; motor delay; 9m-sit; 26m-walk; speech delay; 3y-first words; moderate intellectual deficiency; behavioral problems; feeding difficulties; no deafness; no vision disorder; no strabismus; MRI brain abnormalities, white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; downturned mouth; thin upper lip; pointed chin; blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly" "" "" "8y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239652" "05611" "00315906" "00006" "Isolated (sporadic)" "4y5m" "birth 38w; birth weight 2980g, length 48.5cm, OFC 35cm; weight 0 SD, height −1 SD, OFC 2 SD; neonatal hypotonia; motor delay; 13m-sit; 29m-walk; speech delay; 18m-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; constipation; no deafness; no vision disorder; no strabismus; no macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly" "" "" "5y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239653" "05611" "00315907" "00006" "Isolated (sporadic)" "2y10m" "birth 39w; birth weight 3400g, length 50cm; weight +0.5 SD, height 1 SD, OFC 2 SD; neonatal hypotonia; motor delay; 13m-sit; speech delay; na; behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; no broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; no ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; pointed chin; no blond hair; thin hair; hands/feet anomalies; no long fingers; no clinodactyly" "" "" "1y7m" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239654" "05611" "00315908" "00006" "Isolated (sporadic)" "7y7m" "birth 39w; birth weight 2980g, length 51.5cm, OFC 35.8cm; weight 0 SD, height 1 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 9m-sit; 27m-walk; speech delay; <1y-first words; mild intellectual deficiency; behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; downturned mouth; no thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; clinodactyly" "" "" "6y8m" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239655" "05611" "00315909" "00006" "Isolated (sporadic)" "4y" "birth 40w; birth weight 3431g, length 51cm; weight −2 SD, height −2.5 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 14m-sit; 3y6m-walk; speech delay; 3.5y-4y-first words; moderate intellectual deficiency; no behavioral problems; feeding difficulties; no sleep disorder; constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; ear anomalies; large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth; downturned mouth; no thin upper lip; pointed chin; no blond hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "2y8m" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239656" "05611" "00315910" "00006" "Isolated (sporadic)" "3y9m" "birth 37+6w; birth weight 2800g, length 49.5cm, OFC 36cm; weight 0 SD, height −1.5 SD, OFC 3 SD; neonatal hypotonia; motor delay; >1y-sit; 2y6m-walk; speech delay; behavioral problems; no sleep disorder; no deafness; strabismus; MRI brain no abnormalities; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; no large/prominent nose; tubular shaped nose; wide nasal base; short philtrum; broad mouth; downturned mouth; thin upper lip; blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "4y6m" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239657" "05611" "00315911" "00006" "Isolated (sporadic)" "13y5m" "birth 38w; birth weight 2610g, length 46cm, OFC 34.5cm; weight −2.5 SD, height −2 SD, OFC −1.5 SD; no neonatal hypotonia; motor delay; >1y-sit; 5y-walk; speech delay; 3y-first words; moderate/severe intellectual deficiency; behavioral problems; feeding difficulties; sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain no abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; ear anomalies; large/prominent nose; tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; downturned mouth; thin upper lip; pointed chin; blond hair; no thin hair; hands/feet anomalies; long fingers; clinodactyly" "" "" "13y5m" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239658" "05611" "00315912" "00006" "Isolated (sporadic)" "8y10m" "birth 41w; birth weight 4100g, length 52cm, OFC 36cm; weight −0.8 SD, height −1.5 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 18m-sit; 3y-walk; speech delay; 4y-first words; moderate/severe intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; no vision disorder; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; no macrocephaly; no dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; short philtrum; no broad mouth; no downturned mouth; no thin upper lip; blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "8y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239659" "05611" "00315913" "00006" "Isolated (sporadic)" "6y" "birth 38w; birth weight 3140g, length 52cm, OFC 37.5cm; weight +0.5 SD, height +0.75 SD, OFC 4 SD; neonatal hypotonia; motor delay; 18m-sit; 5y-walk; speech delay; 6y-first words; moderate intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; no blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "7y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239660" "05611" "00315914" "00006" "Isolated (sporadic)" "7y6m" "birth 38w; birth weight 2840g, length 51cm, OFC 35cm; weight −0.4 SD, height −1 SD, OFC −0.38 SD; neonatal hypotonia; motor delay; 18m-sit; 2y9m-walk; speech delay; moderate intellectual deficiency; behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; no strabismus; MRI brain no abnormalities; no macrocephaly; no dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; no hypertelorism; periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; blond hair; thin hair; hands/feet anomalies; no long fingers; no clinodactyly" "" "" "7y6m" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239661" "05611" "00315915" "00006" "Isolated (sporadic)" "15y6m" "birth 38w; birth weight 3800g, length 50cm, OFC 41cm; weight −2.3 SD, height −2.5 SD, OFC +3.5 SD; neonatal hypotonia; motor delay; 12m-sit; 3y-walk; speech delay; profound intellectual deficiency; behavioral problems; feeding difficulties; sleep disorder; constipation; no deafness; no vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; wide nasal base; short philtrum; broad mouth; no downturned mouth; thin upper lip; pointed chin; blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "14y6m" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239662" "05611" "00315916" "00006" "Isolated (sporadic)" "5y6m" "birth 39w; birth weight 3350g, length 50cm; weight +0.58 SD, height −0.64 SD, OFC +1.72 SD; neonatal hypotonia; motor delay; 11m-sit; 2y6m-walk; speech delay; moderate/severe intellectual deficiency; behavioral problems; feeding difficulties; no sleep disorder; no constipation; deafness; no vision disorder; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; mild macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth; downturned mouth; no thin upper lip; pointed chin; blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "4y2m" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239663" "05611" "00315917" "00006" "Isolated (sporadic)" "35y" "birth at term; birth weight 3800g, length 50cm; weight SD, height SD, OFC +2.34 SD; no neonatal hypotonia; motor delay; 3y-walk; speech delay; 4y10m-first words; severe intellectual deficiency; behavioral problems; no feeding difficulties; sleep disorder; no constipation; no deafness; no vision disorder; no strabismus; macrocephaly; dysmorphic features; no broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; short philtrum; pointed chin; no blond hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "36y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239664" "05611" "00315918" "00006" "Isolated (sporadic)" "4y4m" "birth 41w; birth weight 3400g, length 51cm, OFC 36cm; weight −1.75 SD, height −0.68 SD, OFC +2.45 SD; no neonatal hypotonia; motor delay; 21m-sit; 4y-walk; speech delay; severe intellectual deficiency; no behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; thin upper lip; no pointed chin; blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly" "" "" "4y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239665" "05611" "00315919" "00006" "Isolated (sporadic)" "" "birth 42w; birth weight 4075g, length 55cm, OFC 38cm; weight 0 SD, height 0 SD, OFC 0 SD; no neonatal hypotonia; motor delay; 14m-sit; 24m-walk; speech delay; 18m-first words; moderate intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain no abnormalities; no macrocephaly; no dysmorphic features; no broad forehead; no narrow palpebral fissures; no deeply set eyes; no hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; no pointed chin; no blond hair; no thin hair" "" "" "12y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000239666" "05611" "00315920" "00006" "Isolated (sporadic)" "11y" "birth 38w; birth weight 3650g, length 52cm, OFC 41cm; weight +0.5SD, height 0 SD, OFC +2.5 SD; neonatal hypotonia; motor delay; 12m; 2y6m-walk; speech delay; severe intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; no deafness; vision disorder; no strabismus; MRI brain abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; hypertelorism; no ear anomalies; large/prominent nose; no tubular shaped nose; wide nasal base; short philtrum; broad mouth; no downturned mouth; no thin upper lip; no pointed chin; no blond hair; no thin hair; no hands/feet anomalies; long fingers; no clinodactyly" "" "" "12y" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" "0000242213" "00198" "00320167" "01807" "Unknown" "" "Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "0000256916" "00139" "00361511" "00006" "Isolated (sporadic)" "3y" "not syndromic; intellectual disability and strabismus" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257321" "05532" "00361924" "01164" "Unknown" "01y" "(+) Dolichocephaly,(+) Low-set ears,(+) Strabismus,(+) Delayed speech and language development,(+) Muscular hypotonia,(+) Global developmental delay,(+) Abnormal foot morphology,(+) Pes planus,(+) Expressive language delay,(+) Pes valgus,(+) Receptive language delay,(+) Splayed toes,(+) Wide nasal base,(+) Exodeviation" "" "" "" "" "" "" "" "" "" "GAND" "" "" "0000330280" "00198" "00440370" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant mental retardation-18 (MIM # 615074)" "" "" "0000346370" "05611" "00457920" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0000256" "" "" "" "" "" "" "" "" "" "GAND" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081077" "00080965" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000181878" "00180938" "1" "01807" "01807" "2018-09-13 19:36:29" "" "" "SEQ" "DNA" "" "" "0000184026" "00183066" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000246999" "00245887" "1" "01807" "01807" "2019-07-11 09:47:51" "" "" "SEQ" "DNA" "" "" "0000247805" "00246694" "1" "01238" "01238" "2019-07-16 15:48:57" "" "" "SEQ-NG-IT" "DNA" "Blood" "gene panel (for the list of genes see PMID:31209962)" "0000300797" "00299687" "1" "01164" "01164" "2020-04-20 10:23:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000303892" "00302766" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000317083" "00315903" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "ID gene panel" "0000317084" "00315904" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317085" "00315905" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "ID gene panel" "0000317086" "00315906" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317087" "00315907" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "ID gene panel" "0000317088" "00315908" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317089" "00315909" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317090" "00315910" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "ID gene panel" "0000317091" "00315911" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "ID gene panel" "0000317092" "00315912" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "ID gene panel" "0000317093" "00315913" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317094" "00315914" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317095" "00315915" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317096" "00315916" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES/ID panel" "0000317097" "00315917" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "ID panel" "0000317098" "00315918" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000317099" "00315919" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317100" "00315920" "1" "00006" "00006" "2020-10-30 10:06:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321352" "00320167" "1" "01807" "01807" "2020-11-23 17:40:01" "" "" "SEQ" "DNA" "" "" "0000335819" "00334590" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335820" "00334591" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335821" "00334592" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000362739" "00361511" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000363152" "00361924" "1" "01164" "01164" "2021-04-12 14:54:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000441855" "00440370" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459540" "00457920" "1" "03544" "03544" "2024-11-21 13:19:51" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000081077" "GATAD2B" "0000303892" "GATAD2B" "0000317083" "GATAD2B" "0000317084" "GATAD2B" "0000317085" "GATAD2B" "0000317086" "GATAD2B" "0000317087" "GATAD2B" "0000317088" "GATAD2B" "0000317089" "GATAD2B" "0000317090" "GATAD2B" "0000317091" "GATAD2B" "0000317092" "GATAD2B" "0000317093" "GATAD2B" "0000317094" "GATAD2B" "0000317095" "GATAD2B" "0000317096" "GATAD2B" "0000317097" "GATAD2B" "0000317098" "GATAD2B" "0000317099" "GATAD2B" "0000317100" "GATAD2B" "0000362739" "GATAD2B" "0000363152" "GATAD2B" ## 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 = 61 "{{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}}" "0000130163" "0" "70" "1" "153789935" "153789936" "ins" "0" "01758" "GATAD2B_000001" "g.153789935_153789936insATGG" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.153817459_153817460insATGG" "" "likely pathogenic" "ACMG" "0000283348" "0" "70" "1" "153791267" "153791267" "subst" "0" "02329" "GATAD2B_000005" "g.153791267C>T" "" "" "" "GATAD2B(NM_020699.4):c.597G>A (p.K199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153818791C>T" "" "likely pathogenic" "" "0000288233" "0" "90" "1" "153791329" "153791329" "subst" "0" "01943" "GATAD2B_000006" "g.153791329G>A" "" "" "" "GATAD2B(NM_020699.3):c.535C>T (p.R179*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153818853G>A" "" "pathogenic" "" "0000321002" "0" "50" "1" "153785845" "153785845" "subst" "0" "01804" "GATAD2B_000002" "g.153785845C>A" "" "" "" "GATAD2B(NM_020699.2):c.1300G>T (p.(Glu434Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153813369C>A" "" "VUS" "" "0000321003" "0" "50" "1" "153788749" "153788749" "subst" "0" "01804" "GATAD2B_000004" "g.153788749C>A" "" "" "" "GATAD2B(NM_020699.2):c.1216G>T (p.(Gly406Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153816273C>A" "" "VUS" "" "0000337274" "0" "10" "1" "153790501" "153790501" "subst" "0.323216" "02327" "GATAD2B_000009" "g.153790501C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153818025C>T" "" "benign" "" "0000337275" "0" "90" "1" "153792081" "153792081" "subst" "0" "02327" "GATAD2B_000013" "g.153792081C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153819605C>G" "" "pathogenic" "" "0000337276" "0" "90" "1" "153800488" "153800488" "subst" "0" "02327" "GATAD2B_000015" "g.153800488C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153828012C>T" "" "pathogenic" "" "0000344623" "0" "90" "1" "153791302" "153791302" "subst" "0" "02327" "GATAD2B_000012" "g.153791302G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153818826G>A" "" "pathogenic" "" "0000344855" "0" "90" "1" "153785737" "153785737" "subst" "0" "02327" "GATAD2B_000008" "g.153785737G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153813261G>A" "" "pathogenic" "" "0000405572" "0" "70" "1" "153784590" "153784590" "subst" "0" "01807" "GATAD2B_000016" "g.153784590G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.153812114G>A" "" "likely pathogenic" "" "0000407964" "0" "70" "1" "153785737" "153785737" "subst" "0" "00006" "GATAD2B_000008" "g.153785737G>A" "" "{PMID:de Ligt 2012:23033978}" "" "NM_020699.2:c.1408C>T (Gln470*)" "candidate variant" "De novo" "" "" "0" "" "" "g.153813261G>A" "" "likely pathogenic" "" "0000499839" "0" "90" "1" "153788348" "153802394" "del" "0" "01807" "GATAD2B_000017" "g.153788348_153802394del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.153815872_153829918del" "" "pathogenic" "" "0000500690" "0" "70" "1" "153789907" "153789907" "subst" "0" "01238" "GATAD2B_000018" "g.153789907T>A" "1/485 cases" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "-" "" "0" "" "" "g.153817431T>A" "" "pathogenic" "" "0000503480" "0" "90" "1" "153790520" "153790520" "subst" "0" "02327" "GATAD2B_000020" "g.153790520A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153818044A>C" "" "pathogenic" "" "0000503481" "0" "30" "1" "153790539" "153790539" "subst" "0" "01804" "GATAD2B_000021" "g.153790539G>A" "" "" "" "GATAD2B(NM_020699.2):c.706C>T (p.(Pro236Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153818063G>A" "" "likely benign" "" "0000503482" "0" "70" "1" "153791352" "153791352" "dup" "0" "01804" "GATAD2B_000022" "g.153791352dup" "" "" "" "GATAD2B(NM_020699.2):c.512dupA (p.(Asp171GlufsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153818876dup" "" "likely pathogenic" "" "0000663694" "0" "70" "1" "153792134" "153792134" "del" "0" "01164" "GATAD2B_000023" "g.153792134del" "" "" "" "" "ACMG grading: PVS1,PM2\r\n1,5 year old boy, developmental delay, motor and speech, big head, white spots dorsal" "Germline" "" "" "0" "" "" "g.153819658del" "" "likely pathogenic" "ACMG" "0000667294" "0" "70" "1" "153785930" "153785930" "subst" "0" "00006" "GATAD2B_000024" "g.153785930T>C" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.153813454T>C" "" "pathogenic (dominant)" "" "0000699268" "0" "90" "1" "153784765" "153796465" "del" "0" "00006" "GATAD2B_000028" "g.153784765_153796465del" "" "{PMID:Vera 2020:32688057}" "" "g.153784763_153796463del" "" "De novo" "" "" "0" "" "" "g.153812289_153823989del" "" "pathogenic (dominant)" "" "0000699269" "0" "90" "1" "153790571" "153790572" "del" "0" "00006" "GATAD2B_000036" "g.153790571_153790572del" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153818095_153818096del" "" "pathogenic (dominant)" "" "0000699270" "0" "90" "1" "153800710" "153800710" "dup" "0" "00006" "GATAD2B_000039" "g.153800710dup" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153828234dup" "" "pathogenic (dominant)" "" "0000699271" "0" "90" "1" "153785884" "153785884" "dup" "0" "00006" "GATAD2B_000031" "g.153785884dup" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153813408dup" "" "pathogenic (dominant)" "" "0000699272" "11" "90" "1" "153785734" "153785734" "subst" "0" "00006" "GATAD2B_000030" "g.153785734G>A" "" "{PMID:Vera 2020:32688057}" "" "" "paternal mosaicism (0.15)" "Germline" "" "" "0" "" "" "g.153813258G>A" "" "pathogenic (dominant)" "" "0000699273" "0" "90" "1" "153784318" "153784318" "subst" "0" "00006" "GATAD2B_000025" "g.153784318G>A" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153811842G>A" "" "pathogenic (dominant)" "" "0000699274" "0" "90" "1" "153791266" "153791266" "subst" "0" "00006" "GATAD2B_000037" "g.153791266C>T" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153818790C>T" "" "pathogenic (dominant)" "" "0000699275" "0" "90" "1" "153788768" "153788769" "del" "0" "00006" "GATAD2B_000034" "g.153788768_153788769del" "" "{PMID:Vera 2020:32688057}" "" "g.153788766_153788767del" "" "De novo" "" "" "0" "" "" "g.153816292_153816293del" "" "pathogenic (dominant)" "" "0000699276" "0" "90" "1" "153784596" "153784596" "subst" "0" "00006" "GATAD2B_000026" "g.153784596G>A" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153812120G>A" "" "pathogenic (dominant)" "" "0000699277" "0" "90" "1" "153791329" "153791329" "subst" "0" "00006" "GATAD2B_000006" "g.153791329G>A" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153818853G>A" "" "pathogenic (dominant)" "" "0000699278" "0" "90" "1" "153788992" "153788992" "subst" "0" "00006" "GATAD2B_000035" "g.153788992G>A" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153816516G>A" "" "pathogenic (dominant)" "" "0000699279" "0" "90" "1" "153784599" "153784599" "subst" "0" "00006" "GATAD2B_000027" "g.153784599G>A" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153812123G>A" "" "pathogenic (dominant)" "" "0000699280" "0" "90" "1" "153800553" "153800553" "dup" "0" "00006" "GATAD2B_000038" "g.153800553dup" "" "{PMID:Vera 2020:32688057}" "" "271dupA" "" "De novo" "" "" "0" "" "" "g.153828077dup" "" "pathogenic (dominant)" "" "0000699281" "0" "90" "1" "153785728" "153785728" "subst" "0" "00006" "GATAD2B_000029" "g.153785728G>A" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153813252G>A" "" "pathogenic (dominant)" "" "0000699282" "0" "90" "1" "153785929" "153785929" "subst" "0" "00006" "GATAD2B_000033" "g.153785929C>G" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153813453C>G" "" "pathogenic (dominant)" "" "0000699283" "0" "90" "1" "153788348" "153802394" "del" "0" "00006" "GATAD2B_000017" "g.153788348_153802394del" "" "{PMID:Vera 2020:32688057}" "" "g.153788317_153802363del" "" "De novo" "" "" "0" "" "" "g.153815872_153829918del" "" "pathogenic (dominant)" "" "0000699284" "0" "90" "1" "153784590" "153784590" "subst" "0" "00006" "GATAD2B_000016" "g.153784590G>A" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153812114G>A" "" "pathogenic (dominant)" "" "0000699285" "0" "90" "1" "153785899" "153785899" "subst" "0" "00006" "GATAD2B_000032" "g.153785899C>A" "" "{PMID:Vera 2020:32688057}" "" "" "" "De novo" "" "" "0" "" "" "g.153813423C>A" "" "pathogenic (dominant)" "" "0000704181" "0" "70" "1" "153788768" "153788769" "del" "0" "01807" "GATAD2B_000034" "g.153788768_153788769del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.153816292_153816293del" "" "likely pathogenic" "" "0000716865" "0" "90" "1" "153785904" "153785904" "dup" "0" "02329" "GATAD2B_000019" "g.153785904dup" "" "" "" "GATAD2B(NM_020699.4):c.1243dupG (p.V415Gfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716866" "0" "50" "1" "153790565" "153790565" "subst" "4.08083E-6" "02325" "GATAD2B_000040" "g.153790565G>A" "" "" "" "GATAD2B(NM_020699.4):c.680C>T (p.S227F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716867" "0" "70" "1" "153800530" "153800531" "del" "0" "02327" "GATAD2B_000041" "g.153800530_153800531del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000734731" "0" "30" "1" "153777495" "153777495" "subst" "0" "00000" "GATAD2B_000042" "g.153777495T>C" "12/25 families" "{PMID:Maranhao 2015:26352687}" "" "GATAD2B:c.*5158A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734732" "0" "30" "1" "153777499" "153777499" "subst" "0" "00000" "GATAD2B_000043" "g.153777499A>C" "9/25 families" "{PMID:Maranhao 2015:26352687}" "" "GATAD2B:c.*5154T>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734733" "0" "30" "1" "153777503" "153777503" "subst" "0" "00000" "GATAD2B_000044" "g.153777503A>C" "9/25 families" "{PMID:Maranhao 2015:26352687}" "" "GATAD2B:c.*5150T>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000763113" "1" "90" "1" "153791312" "153791315" "del" "0" "00006" "GATAD2B_000045" "g.153791312_153791315del" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PS2" "De novo" "" "" "0" "" "" "g.153818836_153818839del" "" "pathogenic" "ACMG" "0000763598" "0" "70" "1" "153791399" "153791399" "subst" "0" "01164" "GATAD2B_000046" "g.153791399C>G" "" "" "" "" "ACMG: PVS1; PM2_SUP; This variant probably leads to in-frame skipping of exon 3 of the GATAD2B gene. Another exon 3 skipping variant as well as several loss-of-function and missense variants in exon 3 of the GATAD2B gene are described as clearly pathogenic in databases and in the literature." "Germline/De novo (untested)" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000798798" "0" "70" "1" "153785853" "153785853" "subst" "0" "02327" "GATAD2B_000047" "g.153785853C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798799" "0" "90" "1" "153785877" "153785877" "subst" "0" "02325" "GATAD2B_000048" "g.153785877C>T" "" "" "" "GATAD2B(NM_020699.4):c.1268G>A (p.C423Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882794" "0" "90" "1" "153792156" "153792156" "dup" "0" "02327" "GATAD2B_000049" "g.153792156dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922954" "0" "70" "1" "153789848" "153789848" "del" "0" "02325" "GATAD2B_000050" "g.153789848del" "" "" "" "GATAD2B(NM_020699.4):c.900+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000939797" "0" "70" "1" "153791266" "153791266" "subst" "0" "00006" "GATAD2B_000037" "g.153791266C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.153818790C>T" "" "likely pathogenic (dominant)" "" "0000990351" "0" "30" "1" "153784551" "153784551" "subst" "0" "01804" "GATAD2B_000051" "g.153784551C>A" "" "" "" "GATAD2B(NM_020699.2):c.1477G>T (p.(Val493Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990352" "0" "50" "1" "153784562" "153784562" "subst" "0" "01804" "GATAD2B_000052" "g.153784562G>A" "" "" "" "GATAD2B(NM_020699.2):c.1466C>T (p.(Thr489Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990353" "0" "30" "1" "153785875" "153785875" "subst" "4.06253E-5" "01804" "GATAD2B_000053" "g.153785875G>A" "" "" "" "GATAD2B(NM_020699.2):c.1270C>T (p.(Arg424Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990354" "0" "30" "1" "153789848" "153789848" "subst" "9.77154E-6" "02325" "GATAD2B_000054" "g.153789848C>T" "" "" "" "GATAD2B(NM_020699.4):c.900G>A (p.P300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990355" "0" "30" "1" "153789849" "153789849" "subst" "1.46202E-5" "01804" "GATAD2B_000055" "g.153789849G>A" "" "" "" "GATAD2B(NM_020699.2):c.899C>T (p.(Pro300Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990356" "0" "50" "1" "153789850" "153789850" "subst" "0" "01804" "GATAD2B_000056" "g.153789850G>C" "" "" "" "GATAD2B(NM_020699.2):c.898C>G (p.(Pro300Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017594" "0" "90" "1" "153790591" "153790592" "dup" "0" "03544" "GATAD2B_000057" "g.153790591_153790592dup" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.153818115_153818116dup" "{CV:3381764}" "pathogenic" "ACMG" "0001031290" "0" "30" "1" "153786402" "153786402" "subst" "0" "01804" "GATAD2B_000058" "g.153786402C>T" "" "" "" "GATAD2B(NM_020699.4):c.1217-474G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031291" "0" "30" "1" "153891284" "153891284" "subst" "0" "01804" "DENND4B_000011" "g.153891284A>G" "" "" "" "GATAD2B(NM_020699.4):c.-2+3925T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031292" "0" "30" "1" "153891294" "153891294" "subst" "0" "01804" "DENND4B_000012" "g.153891294A>G" "" "" "" "GATAD2B(NM_020699.4):c.-2+3915T>C" "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 GATAD2B ## Count = 61 "{{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}}" "0000130163" "00008374" "70" "815" "0" "816" "0" "c.815_816insTCCA" "r.(?)" "p.(Gln272Hisfs*11)" "" "0000283348" "00008374" "70" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Lys199=)" "" "0000288233" "00008374" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Ter)" "" "0000321002" "00008374" "50" "1300" "0" "1300" "0" "c.1300G>T" "r.(?)" "p.(Glu434Ter)" "" "0000321003" "00008374" "50" "1216" "0" "1216" "0" "c.1216G>T" "r.(?)" "p.(Gly406Cys)" "" "0000337274" "00008374" "10" "729" "15" "729" "15" "c.729+15G>A" "r.(=)" "p.(=)" "" "0000337275" "00008374" "90" "465" "1" "465" "1" "c.465+1G>C" "r.spl?" "p.?" "" "0000337276" "00008374" "90" "335" "1" "335" "1" "c.335+1G>A" "r.spl?" "p.?" "" "0000344623" "00008374" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Gln188Ter)" "" "0000344855" "00008374" "90" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Gln470Ter)" "" "0000405572" "00008374" "70" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Gln480*)" "" "0000407964" "00008374" "00" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Gln470*)" "" "0000499839" "00008374" "90" "-1" "-1539" "1216" "432" "c.-1-1539_1216+432del" "r.(?)" "?" "" "0000500690" "00008374" "70" "841" "0" "841" "0" "c.841A>T" "r.(?)" "p.(Lys281*)" "6" "0000503480" "00008374" "90" "725" "0" "725" "0" "c.725T>G" "r.(?)" "p.(Leu242Ter)" "" "0000503481" "00008374" "30" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Pro236Ser)" "" "0000503482" "00008374" "70" "512" "0" "512" "0" "c.512dup" "r.(?)" "p.(Asp171GlufsTer2)" "" "0000663694" "00008374" "70" "414" "0" "414" "0" "c.414del" "r.(?)" "p.(Ser139Valfs*13)" "" "0000667294" "00008374" "70" "1217" "-2" "1217" "-2" "c.1217-2A>G" "r.spl" "p.?" "" "0000699268" "00008374" "90" "335" "4026" "1420" "-155" "c.335+4026_1420-155del" "r.?" "p.?" "2i_8i" "0000699269" "00008374" "90" "673" "0" "674" "0" "c.673_674del" "r.(?)" "p.(Leu225Serfs*10)" "5" "0000699270" "00008374" "90" "115" "0" "115" "0" "c.115dup" "r.(?)" "p.(Ala39Glyfs*20)" "2" "0000699271" "00008374" "90" "1261" "0" "1261" "0" "c.1261dup" "r.(?)" "p.(Ala421Glyfs*18)" "8" "0000699272" "00008374" "90" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Gln471*)" "8" "0000699273" "00008374" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Gln513*)" "10" "0000699274" "00008374" "90" "597" "1" "597" "1" "c.597+1G>A" "r.spl" "p.?" "4i" "0000699275" "00008374" "90" "1198" "0" "1199" "0" "c.1198_1199del" "r.(?)" "p.(Ser400Cysfs*3)" "7" "0000699276" "00008374" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478*)" "9" "0000699277" "00008374" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "4" "0000699278" "00008374" "90" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Gln325*)" "7" "0000699279" "00008374" "90" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Gln477*)" "9" "0000699280" "00008374" "90" "271" "0" "271" "0" "c.271dup" "r.(?)" "p.(Thr91Asnfs*12)" "2" "0000699281" "00008374" "90" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Gln473*)" "8" "0000699282" "00008374" "90" "1217" "-1" "1217" "-1" "c.1217-1G>C" "r.spl" "p.?" "7i" "0000699283" "00008374" "90" "-1" "-1539" "1216" "432" "c.-1-1539_1216+432del" "r.?" "p.?" "1i_7i" "0000699284" "00008374" "90" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Gln480*)" "9" "0000699285" "00008374" "90" "1246" "0" "1246" "0" "c.1246G>T" "r.(?)" "p.(Glu416*)" "8" "0000704181" "00008374" "70" "1198" "0" "1199" "0" "c.1198_1199del" "r.(?)" "p.(Ser400Cysfs*3)" "" "0000716865" "00008374" "90" "1243" "0" "1243" "0" "c.1243dup" "r.(?)" "p.(Val415GlyfsTer2)" "" "0000716866" "00008374" "50" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Ser227Phe)" "" "0000716867" "00008374" "70" "295" "0" "296" "0" "c.295_296del" "r.(?)" "p.(Asn99Hisfs*3)" "" "0000734731" "00008374" "30" "6940" "0" "6940" "0" "c.*5158A>G" "r.(=)" "p.(=)" "" "0000734732" "00008374" "30" "6936" "0" "6936" "0" "c.*5154T>G" "r.(=)" "p.(=)" "" "0000734733" "00008374" "30" "6932" "0" "6932" "0" "c.*5150T>G" "r.(=)" "p.(=)" "" "0000763113" "00008374" "90" "552" "0" "555" "0" "c.552_555del" "r.(?)" "p.(Lys184Asnfs*2)" "" "0000763598" "00008374" "70" "466" "-1" "466" "-1" "c.466-1G>C" "r.spl?" "p.?" "" "0000798798" "00008374" "70" "1292" "0" "1292" "0" "c.1292G>A" "r.(?)" "p.(Trp431*)" "" "0000798799" "00008374" "90" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Cys423Tyr)" "" "0000882794" "00008374" "90" "392" "0" "392" "0" "c.392dup" "r.(?)" "p.(Asn131Lysfs*2)" "" "0000922954" "00008374" "70" "900" "1" "900" "1" "c.900+1del" "r.spl?" "p.?" "" "0000939797" "00008374" "70" "597" "1" "597" "1" "c.597+1G>A" "r.spl" "p.?" "" "0000990351" "00008374" "30" "1477" "0" "1477" "0" "c.1477G>T" "r.(?)" "p.(Val493Leu)" "" "0000990352" "00008374" "50" "1466" "0" "1466" "0" "c.1466C>T" "r.(?)" "p.(Thr489Met)" "" "0000990353" "00008374" "30" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424Cys)" "" "0000990354" "00008374" "30" "900" "0" "900" "0" "c.900G>A" "r.(?)" "p.(=)" "" "0000990355" "00008374" "30" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Pro300Leu)" "" "0000990356" "00008374" "50" "898" "0" "898" "0" "c.898C>G" "r.(?)" "p.(Pro300Ala)" "" "0001017594" "00008374" "90" "653" "0" "654" "0" "c.653_654dup" "r.(?)" "p.(Gln219Aspfs*22)" "5" "0001031290" "00008374" "30" "1217" "-474" "1217" "-474" "c.1217-474G>A" "r.(=)" "p.(=)" "" "0001031291" "00008374" "30" "-2" "3925" "-2" "3925" "c.-2+3925T>C" "r.(=)" "p.(=)" "" "0001031292" "00008374" "30" "-2" "3915" "-2" "3915" "c.-2+3915T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000081077" "0000130163" "0000181878" "0000405572" "0000184026" "0000407964" "0000246999" "0000499839" "0000247805" "0000500690" "0000300797" "0000663694" "0000303892" "0000667294" "0000317083" "0000699268" "0000317084" "0000699269" "0000317085" "0000699270" "0000317086" "0000699271" "0000317087" "0000699272" "0000317088" "0000699273" "0000317089" "0000699274" "0000317090" "0000699275" "0000317091" "0000699276" "0000317092" "0000699277" "0000317093" "0000699278" "0000317094" "0000699279" "0000317095" "0000699280" "0000317096" "0000699281" "0000317097" "0000699282" "0000317098" "0000699283" "0000317099" "0000699284" "0000317100" "0000699285" "0000321352" "0000704181" "0000335819" "0000734731" "0000335820" "0000734732" "0000335821" "0000734733" "0000362739" "0000763113" "0000363152" "0000763598" "0000441855" "0000939797" "0000459540" "0001017594"