### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF2C1) # 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}}" "EIF2C1" "eukaryotic translation initiation factor 2C, 1" "1" "p34.3" "unknown" "NC_000001.10" "UD_132319052289" "" "https://www.LOVD.nl/AGO1" "" "1" "3262" "26523" "606228" "1" "1" "1" "1" "NOTE: gene name changed from EIF2C1 to AGO1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from EIF2C1 to AGO1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-24 15:07:05" "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}}" "00006973" "EIF2C1" "eukaryotic translation initiation factor 2C, 1" "001" "NM_012199.2" "" "NP_036331.1" "" "" "" "-213" "7265" "2574" "36348810" "36389899" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07161" "NEDLBAS" "neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures" "AD" "620292" "" "" "" "00006" "2025-03-31 12:04:35" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EIF2C1" "05611" "EIF2C1" "07161" ## Individuals ## Do not remove or alter this header ## ## Count = 39 "{{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}}" "00183685" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}, {PMID:Schalk 2022:34930816}" "" "M" "" "Spain" "" "0" "" "" "" "Pat30" "00302769" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}, {DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Canada" "" "0" "" "" "" "702.278;Pat12;Fam12" "00324868" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Fam1" "00324869" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam2" "00324870" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Fam3" "00324871" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "white" "Fam4" "00324872" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam5" "00324873" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam6" "00324874" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Canada" "" "0" "" "" "" "Fam7" "00324875" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Belgium" "" "0" "" "" "Morocco" "Fam8" "00324876" "" "" "" "2" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, affected monozygotic twin sisters, unaffected non carrier parents" "F" "" "France" "" "0" "" "" "" "Fam9T1" "00324877" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Fam10" "00324878" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam11" "00324879" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam13" "00324880" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam14" "00324881" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam15" "00324882" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Fam16" "00324883" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Fam17" "00324884" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Fam18" "00324885" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Khosian" "Fam19" "00324886" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Fam20" "00324887" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam21" "00324888" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam22" "00324889" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "M" "" "United States" "" "0" "" "" "" "Fam23" "00324890" "" "" "" "2" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 2 affected twin sisters, unaffected non carrier parents" "F" "" "France" "" "0" "" "" "" "Fam24PatA" "00324891" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "M" "" "United States" "" "0" "" "" "" "Fam25" "00324892" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Switzerland" "" "0" "" "" "" "Fam26" "00324893" "" "" "" "1" "" "00006" "{PMID:DDDS 2017:28135719}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00324894" "" "" "" "1" "" "00006" "{PMID:Sanders 2012:22495306}, {PMID:Schalk 2022:34930816}" "" "M" "" "" "" "0" "" "" "" "?" "00324895" "" "" "" "1" "" "00006" "{PMID:Sakaguchi 2019:30213762}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "?" "00324896" "" "" "" "1" "" "00006" "{PMID:Rauch 2012:23020937}, {PMID:Schalk 2022:34930816}" "" "F" "" "" "" "0" "" "" "" "?;Rauch" "00418591" "" "" "00324876" "1" "" "00006" "{PMID:Schalk 2022:34930816}" "twin sister" "F" "" "France" "" "0" "" "" "" "Fam9T2" "00418592" "" "" "00324890" "1" "" "00006" "{PMID:Schalk 2022:34930816}" "twin sister" "F" "" "France" "" "0" "" "" "" "Fam24PatB" "00418627" "" "" "" "1" "" "00006" "{PMID:Tokita 2015:25271087}" "2-generation family, 1 affected, unaffected parents" "F" "" "Germany;Norway" "" "0" "" "" "" "Pat1" "00418628" "" "" "" "1" "" "00006" "{PMID:Tokita 2015:25271087}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "no" "France" "" "0" "" "" "" "Pat2" "00418629" "" "" "" "1" "" "00006" "{PMID:Tokita 2015:25271087}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Italy" "" "0" "" "" "" "Pat3" "00418630" "" "" "" "1" "" "00006" "{PMID:Tokita 2015:25271087}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "Germany" "" "0" "" "" "" "Pat4" "00418637" "" "" "" "1" "" "00006" "{PMID:Tokita 2015:25271087}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "Romania" "" "0" "" "" "" "Pat5" "00464559" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "323597" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 39 "{{individualid}}" "{{diseaseid}}" "00183685" "00139" "00302769" "00139" "00324868" "05611" "00324869" "05611" "00324870" "05611" "00324871" "05611" "00324872" "05611" "00324873" "05611" "00324874" "05611" "00324875" "05611" "00324876" "05611" "00324877" "05611" "00324878" "05611" "00324879" "05611" "00324880" "05611" "00324881" "05611" "00324882" "05611" "00324883" "05611" "00324884" "05611" "00324885" "05611" "00324886" "05611" "00324887" "05611" "00324888" "05611" "00324889" "05611" "00324890" "05611" "00324891" "05611" "00324892" "05611" "00324893" "05611" "00324894" "05611" "00324895" "05611" "00324896" "05611" "00418591" "05611" "00418592" "05611" "00418627" "05611" "00418628" "05611" "00418629" "05611" "00418630" "05611" "00418637" "05611" "00464559" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 07161 ## Count = 39 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000144371" "00139" "00183685" "00006" "Unknown" "" "weight increase, tall stature; mild intellectual disability/developemental delay; hypotonia; no seizures; motor delay; speech delay; autistic behaviour; stereotypies; hyperactivity; sleeping disturbance; flat nasal bridge; thin upper lip; large ears; kidney abnormality" "" "" "" "" "" "" "" "" "intellectual disability" "0000229851" "00139" "00302769" "00006" "Isolated (sporadic)" "12y06m" "weight +2.5SD, length -0.4SD, OFC +0.1SD; moderate intellectual disability/developemental delay; seizures status epilepticus; motor delay; 24m-walk; speech delay; 36; no autistic behaviour" "" "" "" "" "" "" "" "" "intellectual disability" "0000243364" "05611" "00324868" "00006" "Isolated (sporadic)" "10y10m" "see paper; ..., birth 41w, weight -0.3SD, length -0.3SD; weight +0SD, length +0.6SD, OFC +0.6SD; mild intellectual disability/developemental delay; seizures; motor delay; speech delay; 12-24m-first words; autistic behaviour; stereotypies with echolalia; hyperactivity; anxiety; aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; hypothyroidy, growth hormone deficiency" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243365" "05611" "00324869" "00006" "Isolated (sporadic)" "03y" "see paper; ..., birth 37w, weight -1.8SD; 2y-weight +0.3SD, 2y-length 0SD, 2y-OFC +1SD; moderate intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 24m-walk; speech delay; 24m-no speech; autistic behaviour; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; plagiocephaly, brachycephaly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243366" "05611" "00324870" "00006" "Isolated (sporadic)" "08y" "see paper; ..., birth 38w, weight -0.5SD, length -1SD, OFC -0.2SD; 7y-weight -2.7SD, 7y-length -2.8SD, 7y-OFC +0.5SD; severe intellectual disability/developemental delay; seizures; motor delay; 20m-walk; speech delay; autistic behaviour; no hyperactivity; feeding difficulties; sleeping disturbance; no prominent forehead; almond eyes; flat nasal bridge; thin upper lip; epicanthus; hypothyroidy, periodic fever" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243367" "05611" "00324871" "00006" "Isolated (sporadic)" "08y" "see paper; ..., birth 37,1w, weight -2.3SD, length -1.18SD, OFC -1.71SD; weight -2.33SD, length -2.77SD, OFC -1SD; intellectual disability/developemental delay; no seizures; motor delay; 18m-walk; speech delay; autistic behaviour; stereotypies; hyperactivity; aggressiveness; feeding difficulties; sleeping disturbance; wide mouth, high; MRI corpus callosum hypoplasia, bilateral hippocampal dysplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243368" "05611" "00324872" "00006" "Isolated (sporadic)" "06y" "see paper; ..., birth weight -1.6SD; weight -3.9SD, length -3.3SD, OFC -0.6SD; hypotonia; no seizures; motor delay; no at 24m-not walking; speech delay; autistic behaviour; stereotypies with echolalia; no hyperactivity; sleeping disturbance; small nose; hypoplastic teeth, reduced enamel" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243369" "05611" "00324873" "00006" "Isolated (sporadic)" "09y" "see paper; ..., birth 41w, weight +0.4SD; weight +2SD, OFC +0.3SD; moderate intellectual disability/developemental delay; motor delay; speech delay; no speech (regression); autistic behaviour; stereotypies; hyperactivity; aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; 18m-fever" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243370" "05611" "00324874" "00006" "Isolated (sporadic)" "08y10m" "see paper; ..., birth 35w (dizygotic twin), weight -1.2SD, length -1.8SD, OFC -0.2SD; weight -3SD, length -2.7SD, OFC -1.5SD; severe intellectual disability/developemental delay; seizures; motor delay; 36-40m-walk; speech delay; no speech; autistic behaviour; aggressiveness; no feeding difficulties; no sleeping disturbance; prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; telecanthus; acetab dysplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243371" "05611" "00324875" "00006" "Isolated (sporadic)" "12y" "see paper; ..., birth 41w, length +0.2SD; weight -0.2SD, length -3.1SD, OFC +1.2SD; moderate intellectual disability/developemental delay; hypotonia; seizures; motor delay; 24m-walk; speech delay; 42m-first words; autistic behaviour; hyperactivity; aggressiveness; no feeding difficulties; sleeping disturbance; almond eyes; hyperlordosis; supernumary nipple, strabismus; MRI corpus callosum agenesis, colpocephaly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243372" "05611" "00324876" "00006" "Isolated (sporadic)" "08y" "see paper; ..., birth 37w+6 (monozygotic twin), weight -1SD, length -1SD, OFC +0.5SD; weight -1,5SD, length -3SD, OFC +1SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; speech delay; autistic behaviour; stereotypies; feeding difficulties; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip; profound deafness, absent eye contact" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243373" "05611" "00324877" "00006" "Isolated (sporadic)" "08y" "see paper; ..., birth 39w, weight 0SD; 2y-weight 0SD, 7y-length -0.5SD, 8y-OFC +1.8SD; mild intellectual disability/developemental delay; no seizures; motor delay; 20m-walk; speech delay; 42m-first words; no autistic behaviour ; no hyperactivity; feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243374" "05611" "00324878" "00006" "Isolated (sporadic)" "10y06m" "see paper; ..., birth 41w, weight +0.8SD; weight -1.2SD, length -3.1SD, OFC +0.6SD; moderate intellectual disability/developemental delay; hypotonia; seizures status epilepticus; motor delay; 20m-walk; speech delay; 12m-first words; autistic behaviour; no hyperactivity; no feeding difficulties; no sleeping disturbance" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243375" "05611" "00324879" "00006" "Isolated (sporadic)" "10y" "see paper; ..., birth 42w, weight +2.9SD, length +2.2SD, OFC +3.3SD; weight -0.9SD, length -1.6SD, OFC +0.2SD; moderate intellectual disability/developemental delay; hypotonia; seizures; motor delay; 36m-walk; speech delay; 18; no autistic behaviour ; no stereotypies; no hyperactivity; no anxiety; no aggressiveness; no feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243376" "05611" "00324880" "00006" "Isolated (sporadic)" "05y07m" "see paper; ..., birth 41w, weight +0.8SD, length +2SD, OFC +0.7SD; weight 4SD, length +1.5SD, OFC -0.6SD; moderate intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 20m-walk; speech delay; 36m-no speech; autistic behaviour; hyperactivity; no feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; flat nasal bridge; thin upper lip; brachycephaly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243377" "05611" "00324881" "00006" "Isolated (sporadic)" "12y" "see paper; ..., birth 40w, weight +0.5SD, length -0.8SD, OFC -0.9SD; weight -1SD, length -0.6SD, OFC -1.8SD; moderate intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 22m-walk; speech delay; 42; no autistic behaviour ; no stereotypies; hyperactivity; no feeding difficulties; no sleeping disturbance; deep set ears; mild ataxia, abnormality kidney" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243378" "05611" "00324882" "00006" "Isolated (sporadic)" "20y" "see paper; ..., weight +4.1SD, length +0.3SD, OFC +2.3SD; moderate intellectual disability/developemental delay; seizures; speech delay; autistic behaviour; aggressiveness; sleeping disturbance; supernum. nipple" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243379" "05611" "00324883" "00006" "Isolated (sporadic)" "15y" "see paper; ..., birth 41w, weight +0.2SD, length -1SD, OFC +1.2SD; weight -0.3SD, length -0.5SD, OFC +1.9SD; mild intellectual disability/developemental delay; no hypotonia; seizures; no motor delay; 12m-walk; speech delay; 36m-first words; autistic behaviour; hyperactivity; no feeding difficulties; no sleeping" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243380" "05611" "00324884" "00006" "Isolated (sporadic)" "06y06m" "see paper; ..., birth weight -0.2SD; weight +0.5SD, length -0.5SD, OFC +1,3SD; mild intellectual disability/developemental delay; no hypotonia; seizures; no motor delay; speech delay; no autistic behaviour ; hyperactivity; anxiety; aggressiveness; no feeding difficulties; no sleeping disturbance; flat nasal bridge; epicanthus" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243381" "05611" "00324885" "00006" "Isolated (sporadic)" "02y03m" "see paper; ..., birth weight -1.5SD, length -0.5SD, OFC -2SD; weight -1SD, length -4.8SD, OFC +0.5SD; moderate intellectual disability/developemental delay; no seizures; motor delay; 21m-walk; speech delay; no speech; autistic behaviour; stereotypies; no hyperactivity; aggressiveness; sleeping disturbance; prominent forehead; no thin upper lip; macrocephaly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243382" "05611" "00324886" "00006" "Isolated (sporadic)" "04y" "see paper; ..., birth 39w, weight +0.5SD, length -0.9SD, OFC +0.6SD; weight -1.8SD, length -2.5SD, OFC +0.1SD; severe intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 30m-walk; speech delay; 16m-first words; autistic behaviour; no hyperactivity; no aggressiveness; no feeding difficulties; no sleeping disturbance; thin upper lip; glabellar hemangioma, 2 café au lait spots" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243383" "05611" "00324887" "00006" "Isolated (sporadic)" "09y" "see paper; ..., birth 40w, weight +0/13SD, OFC -1.3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; 35m-walk; speech delay; no speech; autistic behaviour; stereotypies; hyperactivity; feeding difficulties; sleeping disturbance; almond eyes; thin upper lip; epicanthus" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243384" "05611" "00324888" "00006" "Isolated (sporadic)" "03y05m" "see paper; ..., birth 41w, weight -0.2SD, length -1.3SD, OFC -3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; mild intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 41m-walk; speech delay; 19m-first words; autistic behaviour; stereotypies; feeding difficulties; prominent forehead; metatarsus adductus, lymphedema feet" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243385" "05611" "00324889" "00006" "Isolated (sporadic)" "09y" "see paper; ..., birth weight +0.4SD; weight +5.5SD, length +1.8SD, OFC +1.2SD; borderline intellectual disability/developemental delay; motor delay; 18m-walk; speech delay; autistic behaviour; hyperactivity; anxiety; aggressiveness; no feeding difficulties; sleeping disturbance; flat nasal bridge" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243386" "05611" "00324890" "00006" "Isolated (sporadic)" "18y" "see paper; ..., birth 34w (monozygotic twin), weight -0,5SD, length -2,3SD, OFC <-2SD; weight -2SD, length -1.5SD, OFC -3.9SD; severe intellectual disability/developemental delay; no seizures; motor delay; 25m-walk; speech delay; 36-42m-first words; autistic behaviour; hyperactivity; anxiety; aggressiveness; feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; flat nasal bridge; thin upper lip; camptodactyly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243387" "05611" "00324891" "00006" "Isolated (sporadic)" "07y" "see paper; ..., birth 365 (twin), weight -2.2SD; weight -0.9SD, length -1.7SD, OFC -1.8SD; borderline intellectual disability/developemental delay; no seizures; motor delay; 18m-walk; speech delay; 36-48m-first words; autistic behaviour; stereotypies; hyperactivity; anxiety; aggressiveness; feeding difficulties; flat nasal bridge; no thin upper lip; epicanthus; nystagmus" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243388" "05611" "00324892" "00006" "Isolated (sporadic)" "09y" "see paper; ..., birth 39w, weight +0.9SD, length +0.5SD, OFC +1SD; weight -1.35SD, length -1.1SD, OFC +1.5SD; mild intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 18m-walk; speech delay; no autistic behaviour ; no stereotypies; hyperactivity; anxiety; no aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no almond eyes; no flat nasal bridge; no thin upper lip; strabismus; hypermetropia, gastro-esophageal reflux during first months of life" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243389" "05611" "00324893" "00006" "Isolated (sporadic)" "" "see paper; ...intellectual disability/developemental delay" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243390" "05611" "00324894" "00006" "Isolated (sporadic)" "" "see paper; ..., autistic behaviour" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243391" "05611" "00324895" "00006" "Isolated (sporadic)" "15y" "see paper; ..., birth 41w, weight +2.4SD, length +1.5SD, OFC +1.1SD; weight -1.2SD, length -2.6SD, OFC +1.0SD; moderate intellectual disability/developemental delay; hypotonia; motor delay; almond eyes; flat nasal bridge; telecanthus" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000243392" "05611" "00324896" "00006" "Isolated (sporadic)" "" "see paper; ..., birth 42w; length -1.8SD, OFC -0.9SD; severe intellectual disability/developemental delay; hypotonia; no seizures; motor delay; 48m-walk; speech delay" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309927" "05611" "00418591" "00006" "Isolated (sporadic)" "08y" "see paper; ..., birth 37w+6 (monozygotic twin), length -1,5SD, OFC +0.5SD; weight -2SD, length -3SD, OFC +0SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; speech delay; autistic behaviour; stereotypies; feeding difficulties; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip; mild deafness, absent eye contact" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309928" "05611" "00418592" "00006" "Isolated (sporadic)" "18y" "see paper;..., birth 34w (monozygotic twin), weight +0.3SD, length -1.1SD, OFC <-2SD; weight -1.8SD, length -0.9SD, OFC -3.9SD; moderate intellectual disability/developemental delay; no seizures; motor delay; 25m-walk; speech delay; 36-42m-first words; autistic behaviour; hyperactivity; anxiety; feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; flat nasal bridge; thin upper lip; camptodactyly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309963" "05611" "00418627" "00006" "Unknown" "03y09m" "see paper; ..., birth 38w, pregnancy/delivery uncomplicated; weight 15th%, Height 24th%, OFC 3rd-10th%; motor delay; speech delay; high nasal bridge, upturned nasal tip, mildly down-slanting palpebral fissures, high-arched palate with dental crowding, retrognathia, long-appearing fingers, dysplastic toenails, pronated feet; poor feeding; hypotonia; velopharyngeal insufficiency; astigmatism; male cousin with possible pervasive developmental delay" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309970" "05611" "00418628" "00006" "Isolated (sporadic)" "10y06m" "see paper; ..., birth 37w, pregnancy/delivery uncomplicated; weight 2nd%, height 24th%, OFC 25th%; motor delay; speech delay; special education; bilateral epicanthal folds, triangular upper lip, fullness of periorbital region, long thin fingers; poor feeding; hypotonia; velopharyngeal insufficiency; buccofacial dyspraxia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309971" "05611" "00418629" "00006" "Isolated (sporadic)" "18y" "see paper; ..., birth 42w, pregnancy/delivery uncomplicated; weight 5thd%, height 50th%, OFC <3rd%; motor delay; speech delay; moderate intellectual disability; long hypotonic face, bitemporal narrowing, down-slanting palpebral fissures, ptosis, small ears, retrognathia, high-arched palate, maxillary hypoplasia, long mandible, flat feet; poor feeding; hypotonia; velopharyngeal insufficiency; severe bilateral hip dislocation, joint laxity, nasal voice" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309972" "05611" "00418630" "00006" "Isolated (sporadic)" "00y17m" "see paper; ..., birth 41w, 23w-intra uterine growth retardation, neonatal sepsis; weight 1st (-2.4SD), height <1st (-3.2SD), OFC <1st (-3.3SD); motor delay; speech delay; prominent forehead, deep-set eyes, short palpebral fissures, small chin; poor feeding; hypotonia; no velopharyngeal insufficiency; hypospadias" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000309973" "05611" "00418637" "00006" "Isolated (sporadic)" "13y" "see paper; ..., birth 38w, intra uterine growth retardation, perinatal asphyxia; weight >97th, height 90-97th, OFC 2nd-10th; speech delay; moderate intellectual disability; flat occiput, straight eyebrows, small mouth, bifid uvula, highly arched palate, dorsal left convex kyphoscoliosis, bilateral pes planus; poor feeding; hypotonia; no velopharyngeal insufficiency; joint laxity" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000350566" "05611" "00464559" "01164" "Isolated (sporadic)" "13y" "Intellectual disability, Seizure" "" "" "" "" "" "" "" "NEDLBAS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 39 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184653" "00183685" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000303895" "00302769" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000326075" "00324868" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326076" "00324869" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326077" "00324870" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326078" "00324871" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326079" "00324872" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326080" "00324873" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326081" "00324874" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326082" "00324875" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326083" "00324876" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326084" "00324877" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326085" "00324878" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326086" "00324879" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326087" "00324880" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326088" "00324881" "1" "00006" "00006" "2020-12-24 15:03:09" "00006" "2022-09-30 19:26:30" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000326089" "00324882" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326090" "00324883" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326091" "00324884" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326092" "00324885" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326093" "00324886" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326094" "00324887" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326095" "00324888" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326096" "00324889" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326097" "00324890" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326098" "00324891" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326099" "00324892" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326100" "00324893" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326101" "00324894" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326102" "00324895" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326103" "00324896" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000419886" "00418591" "1" "00006" "00006" "2022-09-30 19:40:05" "" "" "SEQ" "DNA" "" "" "0000419887" "00418592" "1" "00006" "00006" "2022-09-30 19:44:40" "" "" "SEQ" "DNA" "" "" "0000419922" "00418627" "1" "00006" "00006" "2022-10-03 11:24:49" "" "" "arrayCGH" "DNA" "" "Roche Nimblegen CGX-6 135K" "0000419923" "00418628" "1" "00006" "00006" "2022-10-03 11:42:45" "" "" "arrayCGH" "DNA" "" "Agilent Catalog 44K Array" "0000419924" "00418629" "1" "00006" "00006" "2022-10-03 11:46:44" "" "" "arrayCGH" "DNA" "" "BluGnome 180K Cytochip" "0000419925" "00418630" "1" "00006" "00006" "2022-10-03 11:50:14" "" "" "arraySNP" "DNA" "" "Affymetrix CytoScan HD" "0000419932" "00418637" "1" "00006" "00006" "2022-10-03 11:53:33" "" "" "arraySNP" "DNA" "" "Affymetrix GeneChip 6.0" "0000466199" "00464559" "1" "01164" "01164" "2025-03-27 13:13:59" "" "" "SEQ-NG-I" "DNA" "Blood" "AGO1" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000184653" "EIF2C1" "0000303895" "EIF2C1" "0000326075" "EIF2C1" "0000326076" "EIF2C1" "0000326077" "EIF2C1" "0000326078" "EIF2C1" "0000326079" "EIF2C1" "0000326080" "EIF2C1" "0000326081" "EIF2C1" "0000326082" "EIF2C1" "0000326083" "EIF2C1" "0000326084" "EIF2C1" "0000326085" "EIF2C1" "0000326086" "EIF2C1" "0000326087" "EIF2C1" "0000326088" "EIF2C1" "0000326089" "EIF2C1" "0000326090" "EIF2C1" "0000326091" "EIF2C1" "0000326092" "EIF2C1" "0000326093" "EIF2C1" "0000326094" "EIF2C1" "0000326095" "EIF2C1" "0000326096" "EIF2C1" "0000326097" "EIF2C1" "0000326098" "EIF2C1" "0000326099" "EIF2C1" "0000326100" "EIF2C1" "0000326101" "EIF2C1" "0000326102" "EIF2C1" "0000326103" "EIF2C1" "0000419886" "EIF2C1" "0000419887" "EIF2C1" "0000466199" "EIF2C1" ## 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 = 54 "{{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}}" "0000262073" "0" "50" "1" "36359357" "36359357" "subst" "0" "01943" "EIF2C1_000002" "g.36359357G>A" "" "" "" "AGO1(NM_001317122.1):c.595G>A (p.G199S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35893756G>A" "" "VUS" "" "0000408777" "0" "70" "1" "36359345" "36359345" "subst" "0" "00006" "EIF2C1_000001" "g.36359345G>A" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.35893744G>A" "" "likely pathogenic" "" "0000667297" "0" "70" "1" "36359357" "36359357" "subst" "0" "00006" "EIF2C1_000002" "g.36359357G>A" "" "{PMID:Hamdan 2015:25356899}, {DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "g.35893756G>A" "" "pathogenic (dominant)" "" "0000688153" "0" "50" "1" "36384856" "36384856" "subst" "0" "01804" "EIF2C1_000003" "g.36384856G>A" "" "" "" "AGO1(NM_012199.2):c.2465+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000709350" "0" "90" "1" "36359301" "36359303" "del" "0" "00006" "EIF2C1_000004" "g.36359301_36359303del" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709351" "0" "90" "1" "36359301" "36359303" "del" "0" "00006" "EIF2C1_000004" "g.36359301_36359303del" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709352" "0" "90" "1" "36359301" "36359303" "del" "0" "00006" "EIF2C1_000004" "g.36359301_36359303del" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709353" "0" "90" "1" "36359301" "36359303" "del" "0" "00006" "EIF2C1_000004" "g.36359301_36359303del" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709354" "0" "90" "1" "36359301" "36359303" "del" "0" "00006" "EIF2C1_000004" "g.36359301_36359303del" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709355" "0" "90" "1" "36359328" "36359328" "subst" "0" "00006" "EIF2C1_000005" "g.36359328C>T" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "g.35893727C>T" "" "pathogenic (dominant)" "" "0000709356" "0" "90" "1" "36359331" "36359331" "subst" "0" "00006" "EIF2C1_000006" "g.36359331T>G" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709357" "0" "90" "1" "36359331" "36359331" "subst" "0" "00006" "EIF2C1_000006" "g.36359331T>G" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709358" "0" "90" "1" "36359331" "36359331" "subst" "0" "00006" "EIF2C1_000007" "g.36359331T>C" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709359" "0" "90" "1" "36359357" "36359357" "subst" "0" "00006" "EIF2C1_000002" "g.36359357G>A" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709360" "0" "90" "1" "36359357" "36359357" "subst" "0" "00006" "EIF2C1_000002" "g.36359357G>A" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709361" "0" "90" "1" "36359357" "36359357" "subst" "0" "00006" "EIF2C1_000002" "g.36359357G>A" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709362" "0" "90" "1" "36359357" "36359357" "subst" "0" "00006" "EIF2C1_000002" "g.36359357G>A" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709363" "0" "90" "1" "36359636" "36359636" "subst" "0" "00006" "EIF2C1_000009" "g.36359636A>G" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "g.35894035A>G" "" "pathogenic (dominant)" "" "0000709364" "0" "90" "1" "36359746" "36359746" "subst" "0" "00006" "EIF2C1_000010" "g.36359746G>A" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709365" "0" "90" "1" "36359748" "36359748" "subst" "0" "00006" "EIF2C1_000011" "g.36359748G>A" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709366" "0" "90" "1" "36359748" "36359748" "subst" "0" "00006" "EIF2C1_000011" "g.36359748G>A" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709367" "0" "90" "1" "36360821" "36360821" "subst" "0" "00006" "EIF2C1_000012" "g.36360821C>T" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709368" "0" "90" "1" "36367127" "36367127" "subst" "0" "00006" "EIF2C1_000014" "g.36367127A>G" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709369" "0" "90" "1" "36367180" "36367182" "del" "0" "00006" "EIF2C1_000015" "g.36367180_36367182del" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "g.35901579_35901581del" "" "pathogenic (dominant)" "" "0000709370" "0" "90" "1" "36367180" "36367182" "del" "0" "00006" "EIF2C1_000015" "g.36367180_36367182del" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "g.35901579_35901581del" "" "pathogenic (dominant)" "" "0000709371" "0" "90" "1" "36367661" "36367661" "subst" "0" "00006" "EIF2C1_000016" "g.36367661A>T" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709372" "0" "90" "1" "36384011" "36384011" "subst" "0" "00006" "EIF2C1_000017" "g.36384011A>T" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000709373" "0" "90" "1" "36384732" "36384732" "subst" "0" "00006" "EIF2C1_000018" "g.36384732C>T" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35919131C>T" "" "pathogenic (dominant)" "" "0000709374" "0" "90" "1" "36384779" "36384779" "subst" "0" "00006" "EIF2C1_000019" "g.36384779A>T" "" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "g.35919178A>T" "" "pathogenic (dominant)" "" "0000709375" "0" "90" "1" "36359409" "36359409" "subst" "0" "00006" "EIF2C1_000008" "g.36359409A>T" "" "{PMID:DDDS 2017:28135719}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35893808A>T" "" "pathogenic (dominant)" "" "0000709376" "0" "90" "1" "36367118" "36367118" "subst" "0" "00006" "EIF2C1_000013" "g.36367118C>T" "" "{PMID:Sanders 2012:22495306}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35901517C>T" "" "pathogenic (dominant)" "" "0000709377" "0" "90" "1" "36359357" "36359357" "subst" "0" "00006" "EIF2C1_000002" "g.36359357G>A" "" "{PMID:Sakaguchi 2019:30213762}" "" "" "" "De novo" "" "" "0" "" "" "g.35893756G>A" "" "pathogenic (dominant)" "" "0000709378" "0" "90" "1" "36359331" "36359331" "subst" "0" "00006" "EIF2C1_000007" "g.36359331T>C" "" "{PMID:Rauch 2012:23020937}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35893730T>C" "" "pathogenic (dominant)" "" "0000880063" "0" "90" "1" "36359331" "36359331" "subst" "0" "00006" "EIF2C1_000007" "g.36359331T>C" "" "{PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" "g.35893730T>C" "" "pathogenic (dominant)" "" "0000880064" "0" "90" "1" "36384011" "36384011" "subst" "0" "00006" "EIF2C1_000017" "g.36384011A>T" "" "{PMID:Schalk 2022:34930816}" "" "" "" "De novo" "" "" "0" "" "" ".35918410A>T" "" "pathogenic (dominant)" "" "0000880116" "0" "90" "1" "36358320" "39088512" "del" "0" "00006" "EIF2C1_000020" "g.(?_36358320)_(39088512_?)del" "" "{PMID:Tokita 2015:25271087}" "" "hg18 36130907–38861099" "2.7Mb deletion affecting AGO1 and AGO3" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000880117" "0" "90" "1" "36154687" "38591548" "del" "0" "00006" "EIF2C1_000021" "g.(?_36154687)_(38591548_?)del" "" "{PMID:Tokita 2015:25271087}" "" "hg18 36130908-38861099" "2.2 Mb deletion affecting AGO1, AGO3, GO4" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000880118" "0" "90" "1" "35933018" "37052682" "del" "0" "00006" "EIF2C1_000021" "g.(?_35933018)_(37052682_?)del" "" "{PMID:Tokita 2015:25271087}" "" "hg18 35705606-36825269" "1.1 Mb deletion affecting AGO1, AGO3 and AGO4" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000880119" "0" "90" "1" "35771597" "38887351" "del" "0" "00006" "EIF2C1_000021" "g.(?_35771597)_(38887351_?)del" "" "{PMID:Tokita 2015:25271087}" "" "hg18 35544185-38659938" "3.1 Mb deletion affecting AGO1, AGO3 and AGO4" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000880126" "0" "90" "1" "35447244" "36643150" "del" "0" "00006" "EIF2C1_000021" "g.(?_35447244)_(36643150_?)del" "" "{PMID:Tokita 2015:25271087}" "" "hg18 35219832-36415737" "1.2MB deletion affectingA GO1, AGO3 and AGO4" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000923179" "0" "70" "1" "36359357" "36359357" "subst" "0" "02327" "EIF2C1_000002" "g.36359357G>A" "" "" "" "AGO1(NM_001317122.1):c.595G>A (p.G199S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928170" "0" "50" "1" "36385149" "36385149" "subst" "0" "02327" "EIF2C1_000022" "g.36385149G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947237" "0" "50" "1" "36354131" "36354131" "subst" "0" "02325" "EIF2C1_000023" "g.36354131T>G" "" "" "" "AGO1(NM_012199.5):c.129T>G (p.F43L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947238" "0" "70" "1" "36359339" "36359339" "subst" "0" "02325" "EIF2C1_000024" "g.36359339G>C" "" "" "" "AGO1(NM_012199.5):c.577G>C (p.G193R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000961030" "0" "50" "1" "36359367" "36359367" "subst" "0" "02325" "EIF2C1_000025" "g.36359367A>C" "" "" "" "AGO1(NM_012199.5):c.605A>C (p.Q202P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961031" "0" "50" "1" "36367556" "36367556" "subst" "0" "02325" "EIF2C1_000026" "g.36367556A>T" "" "" "" "AGO1(NM_012199.5):c.1148A>T (p.N383I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973912" "0" "30" "1" "36354221" "36354221" "subst" "4.08303E-6" "01804" "EIF2C1_000027" "g.36354221G>A" "" "" "" "AGO1(NM_012199.5):c.209+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973913" "0" "30" "1" "36379435" "36379435" "subst" "4.07498E-6" "01804" "EIF2C1_000028" "g.36379435G>A" "" "" "" "AGO1(NM_012199.5):c.1583-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973914" "0" "50" "1" "36384745" "36384745" "subst" "0" "01804" "EIF2C1_000029" "g.36384745C>A" "" "" "" "AGO1(NM_012199.2):c.2355C>A (p.(Cys785*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991196" "0" "30" "1" "36367811" "36367811" "subst" "0" "01804" "EIF2C1_000030" "g.36367811G>A" "" "" "" "AGO1(NM_012199.2):c.1270G>A (p.(Ala424Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991197" "0" "50" "1" "36383191" "36383191" "subst" "0" "01804" "EIF2C1_000031" "g.36383191T>G" "" "" "" "AGO1(NM_012199.2):c.2029-3T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991198" "0" "50" "1" "36384675" "36384675" "subst" "0" "01804" "EIF2C1_000032" "g.36384675A>G" "" "" "" "AGO1(NM_012199.2):c.2285A>G (p.(His762Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030097" "0" "70" "1" "36383291" "36383291" "subst" "0" "01164" "EIF2C1_000033" "g.36383291A>G" "" "" "" "" "ACMG: PP3_MOD, PS2_SUP, PM2_SUP, PP2, confirmed de novo" "De novo" "-" "" "" "" "" "g.35917690A>G" "" "VUS (!)" "ACMG" "0001032001" "0" "90" "1" "36359301" "36359303" "del" "0" "01804" "EIF2C1_000004" "g.36359301_36359303del" "" "" "" "AGO1(NM_012199.5):c.539_541del (p.(Phe180del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 EIF2C1 ## Count = 54 "{{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}}" "0000262073" "00006973" "50" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000408777" "00006973" "70" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Glu195Lys)" "0" "0000667297" "00006973" "70" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000688153" "00006973" "50" "2465" "1" "2465" "1" "c.2465+1G>A" "r.spl?" "p.?" "" "0000709350" "00006973" "90" "539" "0" "541" "0" "c.539_541del" "r.(?)" "p.(Phe180del)" "" "0000709351" "00006973" "90" "539" "0" "541" "0" "c.539_541del" "r.(?)" "p.(Phe180del)" "" "0000709352" "00006973" "90" "539" "0" "541" "0" "c.539_541del" "r.(?)" "p.(Phe180del)" "" "0000709353" "00006973" "90" "539" "0" "541" "0" "c.539_541del" "r.(?)" "p.(Phe180del)" "" "0000709354" "00006973" "90" "539" "0" "541" "0" "c.539_541del" "r.(?)" "p.(Phe180del)" "" "0000709355" "00006973" "90" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Pro189Leu)" "" "0000709356" "00006973" "90" "569" "0" "569" "0" "c.569T>G" "r.(?)" "p.(Leu190Arg)" "" "0000709357" "00006973" "90" "569" "0" "569" "0" "c.569T>G" "r.(?)" "p.(Leu190Arg)" "" "0000709358" "00006973" "90" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Leu190Pro)" "" "0000709359" "00006973" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000709360" "00006973" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000709361" "00006973" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000709362" "00006973" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000709363" "00006973" "90" "650" "-2" "650" "-2" "c.650-2A>G" "r.650_655del" "p.Val217_Ser218del" "" "0000709364" "00006973" "90" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Arg253His)" "" "0000709365" "00006973" "90" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Val254Ile)" "" "0000709366" "00006973" "90" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Val254Ile)" "" "0000709367" "00006973" "90" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Pro324Leu)" "" "0000709368" "00006973" "90" "1073" "0" "1073" "0" "c.1073A>G" "r.(?)" "p.(Gln358Arg)" "" "0000709369" "00006973" "90" "1126" "0" "1128" "0" "c.1126_1128del" "r.(?)" "p.(Glu376del)" "" "0000709370" "00006973" "90" "1126" "0" "1128" "0" "c.1126_1128del" "r.(?)" "p.(Glu376del)" "" "0000709371" "00006973" "90" "1253" "0" "1253" "0" "c.1253A>T" "r.(?)" "p.(Tyr418Phe)" "" "0000709372" "00006973" "90" "2252" "0" "2252" "0" "c.2252A>T" "r.(?)" "p.(His751Leu)" "" "0000709373" "00006973" "90" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Thr781Met)" "" "0000709374" "00006973" "90" "2389" "0" "2389" "0" "c.2389A>T" "r.(?)" "p.(Ile797Phe)" "" "0000709375" "00006973" "90" "647" "0" "647" "0" "c.647A>T" "r.(?)" "p.(Asp216Val)" "" "0000709376" "00006973" "90" "1064" "0" "1064" "0" "c.1064C>T" "r.(?)" "p.(Thr355Ile)" "" "0000709377" "00006973" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000709378" "00006973" "90" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Leu190Pro)" "" "0000880063" "00006973" "90" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Leu190Pro)" "" "0000880064" "00006973" "90" "2252" "0" "2252" "0" "c.2252A>T" "r.(?)" "p.(His751Leu)" "" "0000880116" "00006973" "90" "0" "0" "0" "0" "c.(?_105+42)_*4690{0}" "r.?" "p.?" "" "0000880117" "00006973" "90" "0" "0" "0" "0" "c.-213_*4690{0}" "r.0" "p.0" "" "0000880118" "00006973" "90" "0" "0" "0" "0" "c.-213_*4690{0}" "r.0" "p.0" "" "0000880119" "00006973" "90" "0" "0" "0" "0" "c.-213_*4690{0}" "r.0" "p.0" "" "0000880126" "00006973" "90" "0" "0" "0" "0" "c.-213_*4690{0}" "r.0" "p.0" "" "0000923179" "00006973" "70" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000928170" "00006973" "50" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Ala839Thr)" "" "0000947237" "00006973" "50" "129" "0" "129" "0" "c.129T>G" "r.(?)" "p.(Phe43Leu)" "" "0000947238" "00006973" "70" "577" "0" "577" "0" "c.577G>C" "r.(?)" "p.(Gly193Arg)" "" "0000961030" "00006973" "50" "605" "0" "605" "0" "c.605A>C" "r.(?)" "p.(Gln202Pro)" "" "0000961031" "00006973" "50" "1148" "0" "1148" "0" "c.1148A>T" "r.(?)" "p.(Asn383Ile)" "" "0000973912" "00006973" "30" "209" "10" "209" "10" "c.209+10G>A" "r.(=)" "p.(=)" "" "0000973913" "00006973" "30" "1583" "-8" "1583" "-8" "c.1583-8G>A" "r.(=)" "p.(=)" "" "0000973914" "00006973" "50" "2355" "0" "2355" "0" "c.2355C>A" "r.(?)" "p.(Cys785*)" "" "0000991196" "00006973" "30" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Ala424Thr)" "" "0000991197" "00006973" "50" "2029" "-3" "2029" "-3" "c.2029-3T>G" "r.spl?" "p.?" "" "0000991198" "00006973" "50" "2285" "0" "2285" "0" "c.2285A>G" "r.(?)" "p.(His762Arg)" "" "0001030097" "00006973" "70" "2126" "0" "2126" "0" "c.2126A>G" "r.?" "p.(His709Arg)" "16" "0001032001" "00006973" "90" "539" "0" "541" "0" "c.539_541del" "r.(?)" "p.(Phe180del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000184653" "0000408777" "0000303895" "0000667297" "0000326075" "0000709350" "0000326076" "0000709351" "0000326077" "0000709352" "0000326078" "0000709353" "0000326079" "0000709354" "0000326080" "0000709355" "0000326081" "0000709356" "0000326082" "0000709357" "0000326083" "0000709358" "0000326084" "0000709359" "0000326085" "0000709360" "0000326086" "0000709361" "0000326087" "0000709362" "0000326088" "0000709363" "0000326089" "0000709364" "0000326090" "0000709365" "0000326091" "0000709366" "0000326092" "0000709367" "0000326093" "0000709368" "0000326094" "0000709369" "0000326095" "0000709370" "0000326096" "0000709371" "0000326097" "0000709372" "0000326098" "0000709373" "0000326099" "0000709374" "0000326100" "0000709375" "0000326101" "0000709376" "0000326102" "0000709377" "0000326103" "0000709378" "0000419886" "0000880063" "0000419887" "0000880064" "0000419922" "0000880116" "0000419923" "0000880117" "0000419924" "0000880118" "0000419925" "0000880119" "0000419932" "0000880126" "0000466199" "0001030097"