### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MOGS) # 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}}" "MOGS" "mannosyl-oligosaccharide glucosidase" "2" "p13.1" "unknown" "NG_008922.1" "UD_132085384876" "" "http://www.LOVD.nl/MOGS" "Congenital Disorder of Glycosylation pages " "1" "24862" "7841" "601336" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/MOGS_codingDNA.html" "1" "" " $\"Euroglycanet$ Congenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2022-10-25 19:38:54" "00000" "2025-11-01 13:22:20" ## 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}}" "00013760" "MOGS" "transcript variant 1" "002" "NM_006302.2" "" "NP_006293.2" "" "" "" "-163" "2732" "2514" "74692537" "74688184" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02572" "CDG2B" "glycosylation, congenital disorder of, type IIb (CDG-2B)" "AR" "606056" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MOGS" "02572" "MOGS" "05461" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00419933" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Pat1" "00419934" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Pat2" "00419935" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Pat3" "00419936" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat4" "00419937" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "3m15d" "0" "" "" "" "Pat5" "00419938" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Pat6" "00419939" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Pat7" "00419940" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat8" "00419941" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "Pat9" "00419942" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat10" "00419943" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Pat11" "00419944" "" "" "" "1" "" "00006" "{PMID:Shimada 2022:35790351}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Pat12" "00419945" "" "" "" "1" "" "00006" "{PMID:De Praeter 2000:10788335}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Belgium" "74d" "0" "" "" "" "patient" "00419946" "" "" "" "1" "" "00006" "{PMID:Kim 2018:29235540}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "4m" "0" "" "" "" "patient" "00419947" "" "" "" "2" "" "00006" "{PMID:Li 2019:30587846}" "2-generation family, affected sisters, unaffected heterozygous carrier parents" "F" "" "China" "9m" "0" "" "" "" "FamPat1" "00419948" "" "" "00419947" "1" "" "00006" "{PMID:Li 2019:30587846}" "sister" "F" "" "China" "10m" "0" "" "" "" "FamPat2" "00419949" "" "" "" "1" "" "00006" "{PMID:Zhao 2020:31925597}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "patient" "00419950" "" "" "" "1" "" "00006" "{PMID:Ota 2020:32246563}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "1y" "0" "" "" "" "patient" "00419951" "" "" "" "1" "" "00006" "{PMID:Lo Barco 2021:33058492}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient" "00419952" "" "" "" "1" "" "00006" "{PMID:Anzai 2021:33261925}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat1" "00419953" "" "" "" "2" "" "00006" "{PMID:Anzai 2021:33261925}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "no" "Japan" "9m" "0" "" "" "" "FamPat2" "00419954" "" "" "00419953" "1" "" "00006" "{PMID:Anzai 2021:33261925}" "brother" "M" "no" "Japan" "9y" "0" "" "" "" "FamPat3" "00419955" "" "" "" "2" "" "00006" "{PMID:Sadat 2014:24716661}" "2-generation family, affected brother/sister unaffected heterozygous carrier parents" "F;M" "" "United States" "" "0" "" "" "" "FamPat1/2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00419933" "05461" "00419934" "05461" "00419935" "05461" "00419936" "05461" "00419937" "05461" "00419938" "05461" "00419939" "05461" "00419940" "05461" "00419941" "05461" "00419942" "05461" "00419943" "05461" "00419944" "05461" "00419945" "05461" "00419946" "05461" "00419947" "05461" "00419948" "05461" "00419949" "05461" "00419950" "05461" "00419951" "05461" "00419952" "05461" "00419953" "05461" "00419954" "05461" "00419955" "05461" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02572, 05461 ## Count = 23 "{{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}}" "0000311200" "05461" "00419933" "00006" "Familial, autosomal recessive" "15y10m" "see paper; ..., brachycephaly; no short palperal fissure; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; retrognathia; no hirsutism; no hand or finger deformities; limb and foot defomities; optic nerve atrophy; strabismus; developmental delay; intellectual disability; hypotonia; neuropathy; sensorineural hearing impairment; 2w-onset seizures, focal seizures; EEG-5y-sharp wave complexs in temporal regions; persistence of primary teeth; osteopenia; scoliosis; low level of IgG (317), IgA (<7), IgM (21); recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; aminoaciduria; no hydronephrosis; hypoplastic genitalia; VitD deficiency, hyperinsulinemia, hyperparathyroidism, premature adrenarche; bronchiectasis" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311201" "05461" "00419934" "00006" "Familial, autosomal recessive" "10y11m" "see paper; ..., no short palperal fissure; long eyelashes; broad nasal tip or nasal arch; -; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment, optic nerve atrophy; nystagmus; strabismus; astigmatism, exotropia, dry eye; developmental delay; intellectual disability; hypotonia; neuropathy; sensorineural hearing impairment; 2d-onset seizures, focal seizures; EEG-alternating epileptiform activity in both hemisphere; hyperdontia; osteopenia; scoliosis; low level of IgG (142), IgA (17), IgM (21); recurrent infections; no hypoventilation; no apnea; dilated aortic root; constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; hydronephrosis; no hypoplastic genitalia; premature adrenarche, hyperinsulinemia;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311202" "05461" "00419935" "00006" "Familial, autosomal recessive" "11y1m" "see paper; ..., no short palperal fissure; long eyelashes; broad nasal tip or nasal arch; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; no hand or finger deformities; limb and foot defomities; cortical visual impairment; nystagmus; strabismus; exotropia, dry eye; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; <2m-onset seizures, tonic seizures with eye deviation; EEG-1m-suppression-burst pattern; osteopenia; scoliosis; mildly low level of IgG 645 (698-1560), IgA 37, IgM 28; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; hepatomegaly; no hypoalbuminemia; mild elevated AST and ALT; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; VitD deficiency, premature adrenarche; FXI 52% (74-157), FV 52% (53-136), protein S 50% (55-134);" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311203" "05461" "00419936" "00006" "Familial, autosomal recessive" "1y6m" "see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; cleft palate; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment, optic nerve atrophy; no nystagmus; strabismus; developmental delay; intellectual disability; hypotonia; sensorineural hearing impairment; 2m-onset seizures, focal tonic seizures; EEG-multifocal spikes arising from both central regions; microdontia, Riga-Fede; osteopenia; no scoliosis; low level of IgG; 367 (16m), 487 (20m), normal IgA, IgM; recurrent infections; hypoventilation; apnea; atrial septal defect, PFO, PDA; bicuspid aortic valve; constipation; gastroesophageal reflux; hepatomegaly; hypoalbuminemia; mild elevated AST and ALT; hydronephrosis; no hypoplastic genitalia; congenital hypothyroidism secondary to an ectopic thyroid gland treatment; line associated thrombus, thrombocytopenia, APTT 43 sec (25-35), ATIII 135 % (75-125), F8 163 (50-150); GI bleeding, gut dysmotility" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311204" "05461" "00419937" "00006" "Familial, autosomal recessive" "3m15d" "see paper; ..., 3m15d-deceased; brachycephaly; short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; cleft palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; no visual impairment; no nystagmus; no strabismus; developmental delay; hypotonia; 6w-onset seizures, focal seizures; EEG-multifocal spikes; no dental abnormalties; no scoliosis; low level of IgA; recurrent infections; hypoventilation; apnea; PDA, PFO; no constipation; hepatomegaly; hypoalbuminemia; mild elevated AST; no aminoaciduria; hydronephrosis; no hypoplastic genitalia; hepatic thrombosis; coagulation screening negative" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311205" "05461" "00419938" "00006" "Familial, autosomal recessive" "" "see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; 2d-onset seizures, generalized tonic-clonic seizures; EEG-compatible with West syndrome; delayed eruption; osteopenia; no scoliosis; low level of IgG (135), IgA (<7), IgM (13); recurrent infections; hypoventilation; apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; hepatomegaly, liver steatosis; normal aminotransferase; aminoaciduria; no hydronephrosis; no hypoplastic genitalia;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311206" "05461" "00419939" "00006" "Familial, autosomal recessive" "3y5m" "see paper; ..., no short palperal fissure; no broad nasal tip or nasal arch; no high-arched palate; no smooth philtrum; no retrognathia; hand or finger deformities; no limb and foot defomities; developmental delay; intellectual disability; hypotonia; 6m-onset seizures; EEG-epileptic cerebral dysfunction (both central regions); no scoliosis; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; aminoaciduria; no hydronephrosis; no hypoplastic genitalia; low TSH and low limit of normal T4; pancreatic dysfunction, eczema, FTT" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311207" "05461" "00419940" "00006" "Familial, autosomal recessive" "6y6m" "see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; no broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; no limb and foot defomities; no visual impairment; no nystagmus; no strabismus; small lens opacity (left), hyperopia, astigmatism; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; caries; no scoliosis; recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311208" "05461" "00419941" "00006" "Familial, autosomal recessive" "1y11m" "see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; no retrognathia; no hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment; no nystagmus; no strabismus; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; no seisures; EEG-abnormal; no dental abnormalties; no bone abnormalties; no scoliosis; hypogammagloblinemia, transient; no recurrent infections; noctural hypoxemia; no apnea; cardiac abnormalities; constipation; hepatomegaly; no hypoalbuminemia; mild transient elevated AST and ALT; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; laryngomalacia, G-tube, swallow dysfunction, mild pectus excavatum" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311209" "05461" "00419942" "00006" "Familial, autosomal recessive" "1y4m" "see paper; ..., no brachycephaly; no short palperal fissure; long eyelashes; no broad nasal tip or nasal arch; ; no visual impairment; no nystagmus; no strabismus; hyperopia; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; no dental abnormalties; no bone abnormalties; no scoliosis; low level of IgG, IgA, IgM; no recurrent infections; no hypoventilation; central and obstructive apnea; cardiac abnormalities; no constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no hypoplastic genitalia; laryngomalacia, central apnea" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311210" "05461" "00419943" "00006" "Familial, autosomal recessive" "21d" "see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; cortical visual impairment; developmental delay; hypotonia; sensorineural hearing impairment; no seisures; EEG-possible left posterior epileptiform activity; osteopenia; no scoliosis; normal IgM, very low IgG and IgA; recurrent infections; hypoventilation; apnea; intraatrial connection; no constipation; no gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; normal aminotransferase; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia; mild left-sided pelvicalyceal dilatation in kidney" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311211" "05461" "00419944" "00006" "Familial, autosomal recessive" "5y2m" "see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; no high-arched palate; smooth philtrum; no downturned corner of mouth; retrognathia; hirsutism; no hand or finger deformities; no limb and foot defomities; cortical visual impairment; nystagmus; strabismus; hypermetropic astigmatism; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; 2w-onset seizures, tonic seizures, epileptic spasm, focal status; EEG-1m-burst supression and multifocal epileptiform activity; large overbite; no bone abnormalties; no scoliosis; normal IgM, low IgG, IgA; no recurrent infections; no hypoventilation; no apnea; perimembranous ventricular septal defect (closed by 17m); constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild transient elevated AST; no aminoaciduria;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311212" "05461" "00419945" "00006" "Familial, autosomal recessive" "74d" "see paper; ..., 74d-deceased; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; abnormal VER; developmental delay; intellectual disability; hypotonia; demyelinating polyneuropathy; sensorineural hearing impairment; 21d-onset seizures, rhythmic clonic jerks, rhythmic vertical eye movements and tonic spasms; EEG-uppression-burst patterns; scoliosis; low level of IgA; recurrent infections; hypoventilation; apnea; no cardiac abnormalities; hepatomegaly, hepatosplenomegaly; mild elevated AST; hypoplastic genitalia; APTT 63.4 (<37);" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311213" "05461" "00419946" "00006" "Familial, autosomal recessive" "4m" "see paper; ..., 4m-deceased; brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; mild anterior subcapsular opacity; developmental delay; intellectual disability; hypotonia; no seisures; low level of IgA, IgM; hypoventilation; apnea; atrial septal defect, LVH; hepatomegaly; ; no hypoplastic genitalia; SIADH, hypothyroidism; thrombocytopenia;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311214" "05461" "00419947" "00006" "Familial, autosomal recessive" "9m" "see paper; ..., 9m-deceased; long eyelashes; no broad nasal tip or nasal arch; high-arched palate; ; developmental delay; sensorineural hearing impairment; no seisures; immunological abnormalities; cardiac abnormalities; no constipation; hepatomegaly; elevated aminotransferase; no hypoplastic genitalia; central hypothyroidism;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311215" "05461" "00419948" "00006" "Familial, autosomal recessive" "10m" "see paper; ..., 10m-deceased; short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; high-arched palate; ; ; ; developmental delay; ; sensorineural hearing impairment; no seisures; ; immunological abnormalities; cardiac abnormalities; no constipation; hepatomegaly; elevated aminotransferase; no hypoplastic genitalia; central hypothyroidism;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311216" "05461" "00419949" "00006" "Familial, autosomal recessive" "2y1m" "see paper; ..., short palperal fissure; broad nasal tip or nasal arch; ; ; low vision; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; <1m-onset seizures, infantile spasms; EEG-atypical hypsarrhythmia; ; low level of IgG, IgM; recurrent infections; no hypoventilation; no apnea; atrial septal defect, PFO; hepatomegaly; elevated aminotransferase; aminoaciduria; no hypoplastic genitalia;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311217" "05461" "00419950" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., 1y-deceasedbroad nasal tip or nasal arch; ; hirsutism; ; ; developmental delay; ; 21d-onset seizures; ; low level of IgA; recurrent infections; hypoventilation; apnea; cardiomyopathy; hepatomegaly; hydronephrosis; intravascular; hypogonadism" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311218" "05461" "00419951" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., long eyelashes; broad nasal tip or nasal arch; no smooth philtrum; retrognathia; hirsutism; visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; <12m-onset seizures, tonic seizure, spasms; EEG-no hypsarrhythmia, multifocal spikes; bone abnormalties; low IgG2; recurrent infections; gastroesophageal reflux; ; ; elevated cortisol, progesterone, androstenedion; chronic lymphocytosis;" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311219" "05461" "00419952" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., short palperal fissure; broad nasal tip or nasal arch; high-arched palate; no smooth philtrum; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; intellectual disability; hypotonia; demyelination; sensorineural hearing impairment; 2m-onset seizures, myoclonic seizures, generalized tonic seizure; EEG-suppression burst pattern, small spike at occipital-parietal-temporal; low IgA (median 21, 10-451), IgG (median 535, 408-1380); recurrent infections; no cardiac abnormalities; hepatomegaly; elevated aminotransferase; hypoplastic genitalia; hyponatremia; thrombocytopenia coagulation; transient atrioventricular block, arthrogryposis" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311220" "05461" "00419953" "00006" "Familial, autosomal recessive" "9m" "see paper; ..., 9m-deceased; short palperal fissure; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; hypotonia; 17d-onset seizures, myoclonic jerks; EEG-suppression burst pattern; ; low IgA (median 63, 49-102), IgG (median 718, 348-1190); recurrent infections; no hypoventilation; no cardiac abnormalities; hepatomegaly; elevated aminotransferase; ; cirrhosis, arthrogryposis" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311221" "05461" "00419954" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., 9y-deceased; short palperal fissure; broad nasal tip or nasal arch; high-arched palate; retrognathia; hirsutism; hand or finger deformities; ; developmental delay; hypotonia; 32d-onset seizures, generalized tonic seizure; EEG-suppression burst pattern; ; low IgA (median 19, 11-27), IgG (540, 495-584); recurrent infections; hypoventilation; no cardiac abnormalities; hepatomegaly; elevated aminotransferase and ALT; ; cirrhosis, arthrogryposis" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" "0000311222" "05461" "00419955" "00006" "Familial, autosomal recessive" "" "see paper; ..., multiple neurologic complications, paradoxical immunologic phenotype, severe hypogammaglobulinemia, limited clinical evidence of infectious diathesis" "" "" "" "" "" "" "" "CDG2B" "congenital disorder of glycosylation" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000421238" "00419933" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421239" "00419934" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421240" "00419935" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421241" "00419936" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ" "DNA" "" "targeted array" "0000421242" "00419937" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421243" "00419938" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000421244" "00419939" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421245" "00419940" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421246" "00419941" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421247" "00419942" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421248" "00419943" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421249" "00419944" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421250" "00419945" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421251" "00419946" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421252" "00419947" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421253" "00419948" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421254" "00419949" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421255" "00419950" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421256" "00419951" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421257" "00419952" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421258" "00419953" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421259" "00419954" "1" "00006" "00006" "2022-10-27 12:30:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421260" "00419955" "1" "00006" "00006" "2022-10-27 14:25:16" "" "" "RT-PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000421260" "MOGS" ## 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 = 76 "{{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}}" "0000341555" "0" "50" "2" "74688854" "74688854" "subst" "0.000450765" "02327" "MOGS_000002" "g.74688854C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74461727C>T" "" "VUS" "" "0000516971" "0" "30" "2" "74688544" "74688544" "subst" "0" "01804" "INO80B_000001" "g.74688544A>G" "" "" "" "MOGS(NM_001146158.1):c.2054T>C (p.(Val685Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74461417A>G" "" "likely benign" "" "0000516977" "0" "30" "2" "74691677" "74691677" "subst" "4.06154E-6" "01943" "INO80B_000007" "g.74691677C>T" "" "" "" "MOGS(NM_006302.3):c.525G>A (p.R175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74464550C>T" "" "likely benign" "" "0000516978" "0" "90" "2" "74691724" "74691725" "del" "0" "02325" "INO80B_000008" "g.74691724_74691725del" "" "" "" "MOGS(NM_006302.3):c.480_481delCA (p.I161Pfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74464597_74464598del" "" "pathogenic" "" "0000516979" "0" "30" "2" "74692191" "74692191" "subst" "0.0388939" "01804" "INO80B_000009" "g.74692191C>T" "" "" "" "MOGS(NM_006302.2):c.184G>A (p.(Val62Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74465064C>T" "" "likely benign" "" "0000516980" "0" "30" "2" "74692310" "74692310" "subst" "1.56821E-5" "01804" "MOGS_000004" "g.74692310G>T" "" "" "" "MOGS(NM_006302.2):c.65C>A (p.(Ala22Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74465183G>T" "" "likely benign" "" "0000516982" "0" "30" "2" "74692363" "74692363" "subst" "0.000859756" "02326" "INO80B_000012" "g.74692363G>C" "" "" "" "MOGS(NM_006302.3):c.12C>G (p.G4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74465236G>C" "" "likely benign" "" "0000608133" "0" "30" "2" "74690045" "74690046" "ins" "0" "01804" "INO80B_000015" "g.74690045_74690046insCAGG" "" "" "" "MOGS(NM_001146158.1):c.552_553insCCTG (p.(Gly185ProfsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74462918_74462919insCAGG" "" "likely benign" "" "0000621121" "0" "30" "2" "74688861" "74688861" "subst" "0.000950277" "01943" "INO80B_000014" "g.74688861A>G" "" "" "" "MOGS(NM_006302.3):c.2055T>C (p.Y685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74461734A>G" "" "likely benign" "" "0000654723" "0" "30" "2" "74692363" "74692363" "subst" "0.000859756" "01943" "INO80B_000012" "g.74692363G>C" "" "" "" "MOGS(NM_006302.3):c.12C>G (p.G4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74465236G>C" "" "likely benign" "" "0000676723" "0" "50" "2" "74688527" "74688527" "subst" "5.28005E-5" "01943" "INO80B_000016" "g.74688527G>A" "" "" "" "MOGS(NM_006302.3):c.2389C>T (p.R797C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688859" "0" "30" "2" "74689335" "74689335" "subst" "0.0020104" "01943" "INO80B_000017" "g.74689335G>T" "" "" "" "MOGS(NM_006302.3):c.1581C>A (p.D527E, p.(Asp527Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688860" "0" "50" "2" "74689444" "74689444" "subst" "0" "01943" "INO80B_000018" "g.74689444C>A" "" "" "" "MOGS(NM_006302.3):c.1472G>T (p.G491V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688861" "0" "50" "2" "74691766" "74691766" "subst" "2.84419E-5" "02325" "INO80B_000019" "g.74691766A>C" "" "" "" "MOGS(NM_006302.3):c.436T>G (p.(Tyr146Asp), p.Y146D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719068" "0" "50" "2" "74689218" "74689218" "subst" "0.000138079" "02325" "MOGS_000003" "g.74689218G>T" "" "" "" "MOGS(NM_006302.3):c.1698C>A (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719069" "0" "30" "2" "74689916" "74689916" "subst" "0" "02326" "INO80B_000021" "g.74689916A>C" "" "" "" "MOGS(NM_006302.3):c.1000T>G (p.F334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800829" "0" "30" "2" "74688972" "74688972" "subst" "0.000272325" "02326" "INO80B_000022" "g.74688972C>T" "" "" "" "MOGS(NM_006302.3):c.1944G>A (p.E648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800830" "0" "30" "2" "74690022" "74690022" "subst" "0.000711203" "02326" "INO80B_000023" "g.74690022G>A" "" "" "" "MOGS(NM_006302.3):c.894C>T (p.L298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858703" "0" "50" "2" "74684491" "74684491" "subst" "9.59818E-5" "01943" "INO80B_000024" "g.74684491C>T" "" "" "" "INO80B(NM_031288.4):c.571C>T (p.P191S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858704" "0" "30" "2" "74684671" "74684671" "subst" "3.59041E-5" "01943" "INO80B_000025" "g.74684671C>A" "" "" "" "INO80B(NM_031288.4):c.751C>A (p.R251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881869" "1" "90" "2" "74692310" "74692310" "subst" "1.56821E-5" "00006" "MOGS_000004" "g.74692310G>T" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74465183G>T" "" "pathogenic (recessive)" "" "0000881870" "1" "90" "2" "74692310" "74692310" "subst" "1.56821E-5" "00006" "MOGS_000004" "g.74692310G>T" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74465183G>T" "" "pathogenic (recessive)" "" "0000881871" "1" "90" "2" "74689129" "74689129" "subst" "3.24902E-5" "00006" "MOGS_000015" "g.74689129C>T" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74462002C>T" "" "pathogenic (recessive)" "" "0000881872" "3" "90" "2" "74688818" "74688818" "subst" "8.12249E-6" "00006" "MOGS_000011" "g.74688818G>A" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74461691G>A" "" "pathogenic (recessive)" "" "0000881873" "1" "90" "2" "74691832" "74691832" "subst" "1.6378E-5" "00006" "MOGS_000005" "g.74691832G>A" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74464705G>A" "" "pathogenic (recessive)" "" "0000881874" "1" "90" "2" "74690034" "74690034" "del" "4.47158E-5" "00006" "MOGS_000029" "g.74690034del" "" "{PMID:Shimada 2022:35790351}" "" "882delT" "" "Germline" "" "" "0" "" "" "g.74462907del" "" "pathogenic (recessive)" "" "0000881875" "3" "90" "2" "74689150" "74689150" "subst" "0" "00006" "MOGS_000016" "g.74689150G>A" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74462023G>A" "" "pathogenic (recessive)" "" "0000881876" "3" "90" "2" "74689455" "74689455" "subst" "8.14007E-6" "00006" "MOGS_000024" "g.74689455C>G" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74462328C>G" "" "pathogenic (recessive)" "" "0000881877" "1" "90" "2" "74689297" "74689297" "subst" "0" "00006" "MOGS_000019" "g.74689297C>T" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74462170C>T" "" "pathogenic (recessive)" "" "0000881878" "3" "90" "2" "74688826" "74688826" "subst" "4.06105E-6" "00006" "MOGS_000012" "g.74688826A>G" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74461699A>G" "" "pathogenic (recessive)" "" "0000881879" "1" "90" "2" "74689678" "74689705" "dup" "0" "00006" "MOGS_000028" "g.74689678_74689705dup" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74462551_74462578dup" "" "pathogenic (recessive)" "" "0000881880" "1" "90" "2" "74692151" "74692151" "subst" "0" "00006" "MOGS_000031" "g.74692151T>G" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74465024T>G" "" "pathogenic (recessive)" "" "0000881881" "21" "90" "2" "74689459" "74689459" "subst" "0" "00006" "MOGS_000025" "g.74689459C>G" "" "{PMID:De Praeter 2000:10788335}" "" "1587G>C (Arg486Thr)" "" "Germline" "" "" "0" "" "" "g.74462332C>G" "" "pathogenic (recessive)" "" "0000881882" "1" "90" "2" "74688511" "74688511" "subst" "0" "00006" "MOGS_000008" "g.74688511G>A" "" "{PMID:Kim 2018:29235540}" "" "" "" "Germline" "" "" "0" "" "" "g.74461384G>A" "" "pathogenic (recessive)" "" "0000881883" "21" "90" "2" "74689678" "74689705" "dup" "0" "00006" "MOGS_000028" "g.74689678_74689705dup" "" "{PMID:Li 2019:30587846}" "" "1239_1267dup (Asp414Leufs*17)" "" "Germline" "" "" "0" "" "" "g.74462551_74462578dup" "" "pathogenic (recessive)" "" "0000881884" "21" "90" "2" "74689678" "74689705" "dup" "0" "00006" "MOGS_000028" "g.74689678_74689705dup" "" "{PMID:Li 2019:30587846}" "" "1239_1267dup (Asp414Leufs*17)" "" "Germline" "" "" "0" "" "" "g.74462551_74462578dup" "" "pathogenic (recessive)" "" "0000881885" "11" "90" "2" "74689222" "74689222" "subst" "0" "00006" "MOGS_000017" "g.74689222C>T" "" "{PMID:Zhao 2020:31925597}" "" "" "" "Germline" "" "" "0" "" "" "g.74462095C>T" "" "pathogenic (recessive)" "" "0000881886" "11" "90" "2" "74689433" "74689433" "subst" "1.22247E-5" "00006" "MOGS_000023" "g.74689433G>A" "" "{PMID:Ota 2020:32246563}" "" "" "" "Germline" "" "" "0" "" "" "g.74462306G>A" "" "pathogenic (recessive)" "" "0000881887" "1" "90" "2" "74689379" "74689379" "subst" "0" "00006" "MOGS_000021" "g.74689379G>A" "" "{PMID:Lo Barco 2021:33058492}" "" "" "" "Germline" "" "" "0" "" "" "g.74462252G>A" "" "pathogenic (recessive)" "" "0000881888" "11" "90" "2" "74689402" "74689404" "del" "0" "00006" "MOGS_000022" "g.74689402_74689404del" "" "{PMID:Anzai 2021:33261925}" "" "" "" "Germline" "" "" "0" "" "" "g.74462275_74462277del" "" "pathogenic (recessive)" "" "0000881889" "11" "90" "2" "74689402" "74689404" "del" "0" "00006" "MOGS_000022" "g.74689402_74689404del" "" "{PMID:Anzai 2021:33261925}" "" "" "" "Germline" "" "" "0" "" "" "g.74462275_74462277del" "" "pathogenic (recessive)" "" "0000881890" "11" "90" "2" "74689402" "74689404" "del" "0" "00006" "MOGS_000022" "g.74689402_74689404del" "" "{PMID:Anzai 2021:33261925}" "" "" "" "Germline" "" "" "0" "" "" "g.74462275_74462277del" "" "pathogenic (recessive)" "" "0000881891" "2" "90" "2" "74692046" "74692046" "subst" "0" "00006" "MOGS_000006" "g.74692046C>T" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74464919C>T" "" "pathogenic (recessive)" "" "0000881892" "2" "90" "2" "74692046" "74692046" "subst" "0" "00006" "MOGS_000006" "g.74692046C>T" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74464919C>T" "" "pathogenic (recessive)" "" "0000881893" "2" "90" "2" "74689115" "74689115" "subst" "8.12249E-6" "00006" "MOGS_000014" "g.74689115G>A" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74461988G>A" "" "pathogenic (recessive)" "" "0000881894" "2" "90" "2" "74689455" "74689455" "subst" "8.14007E-6" "00006" "MOGS_000024" "g.74689455C>G" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74462328C>G" "" "pathogenic (recessive)" "" "0000881895" "2" "90" "2" "74689235" "74689235" "subst" "1.6245E-5" "00006" "MOGS_000018" "g.74689235G>A" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74462108G>A" "" "pathogenic (recessive)" "" "0000881896" "2" "90" "2" "74688790" "74688790" "subst" "0" "00006" "MOGS_000010" "g.74688790A>G" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74461663A>G" "" "pathogenic (recessive)" "" "0000881897" "2" "90" "2" "74689568" "74689568" "subst" "0" "00006" "MOGS_000026" "g.74689568A>C" "" "{PMID:Shimada 2022:35790351}" "" "" "" "Germline" "" "" "0" "" "" "g.74462441A>C" "" "pathogenic (recessive)" "" "0000881898" "2" "90" "2" "74689630" "74689631" "del" "0" "00006" "MOGS_000027" "g.74689630_74689631del" "" "{PMID:Shimada 2022:35790351}" "" "1286-1287del" "" "Germline" "" "" "0" "" "" "g.74462503_74462504del" "" "pathogenic (recessive)" "" "0000881899" "11" "90" "2" "74688962" "74688962" "subst" "0" "00006" "MOGS_000013" "g.74688962A>G" "" "{PMID:De Praeter 2000:10788335}" "" "2085T>C (Phe652Leu)" "" "Germline" "" "" "0" "" "" "g.74461835A>G" "" "pathogenic (recessive)" "" "0000881900" "2" "90" "2" "74689313" "74689313" "subst" "8.12282E-6" "00006" "MOGS_000020" "g.74689313G>A" "" "{PMID:Kim 2018:29235540}" "" "" "" "Germline" "" "" "0" "" "" "g.74462186G>A" "" "pathogenic (recessive)" "" "0000881901" "11" "70" "2" "74691658" "74691658" "subst" "0" "00006" "MOGS_000030" "g.74691658C>T" "" "{PMID:Li 2019:30587846}" "" "" "" "Germline" "" "" "0" "" "" "g.74464531C>T" "" "likely pathogenic (recessive)" "" "0000881902" "11" "70" "2" "74691658" "74691658" "subst" "0" "00006" "MOGS_000030" "g.74691658C>T" "" "{PMID:Li 2019:30587846}" "" "" "" "Germline" "" "" "0" "" "" "g.74464531C>T" "" "likely pathogenic (recessive)" "" "0000881903" "21" "90" "2" "74689297" "74689297" "subst" "0" "00006" "MOGS_000019" "g.74689297C>T" "" "{PMID:Zhao 2020:31925597}" "" "" "" "Germline" "" "" "0" "" "" "g.74462170C>T" "" "pathogenic (recessive)" "" "0000881904" "21" "90" "2" "74688661" "74688661" "subst" "0" "00006" "MOGS_000009" "g.74688661C>T" "" "{PMID:Ota 2020:32246563}" "" "" "" "Germline" "" "" "0" "" "" "g.74461534C>T" "" "pathogenic (recessive)" "" "0000881905" "2" "90" "2" "74688445" "74688445" "subst" "1.21934E-5" "00006" "MOGS_000007" "g.74688445C>T" "" "{PMID:Lo Barco 2021:33058492}" "" "" "" "Germline" "" "" "0" "" "" "g.74461318C>T" "" "pathogenic (recessive)" "" "0000881906" "21" "90" "2" "74689433" "74689433" "subst" "1.22247E-5" "00006" "MOGS_000023" "g.74689433G>A" "" "{PMID:Anzai 2021:33261925}" "" "" "" "Germline" "" "" "0" "" "" "g.74462306G>A" "" "pathogenic (recessive)" "" "0000881907" "21" "90" "2" "74689313" "74689313" "subst" "8.12282E-6" "00006" "MOGS_000020" "g.74689313G>A" "" "{PMID:Anzai 2021:33261925}" "" "" "" "Germline" "" "" "0" "" "" "g.74462186G>A" "" "pathogenic (recessive)" "" "0000881908" "21" "90" "2" "74689313" "74689313" "subst" "8.12282E-6" "00006" "MOGS_000020" "g.74689313G>A" "" "{PMID:Anzai 2021:33261925}" "" "" "" "Germline" "" "" "0" "" "" "g.74462186G>A" "" "pathogenic (recessive)" "" "0000881909" "11" "70" "2" "74689218" "74689218" "subst" "0.000138079" "00006" "MOGS_000003" "g.74689218G>T" "" "{PMID:Li 2019:30587846}" "" "" "" "Germline" "" "" "0" "" "" "g.74462091G>T" "" "likely pathogenic (recessive)" "" "0000881910" "11" "70" "2" "74689218" "74689218" "subst" "0.000138079" "00006" "MOGS_000003" "g.74689218G>T" "" "{PMID:Li 2019:30587846}" "" "" "" "Germline" "" "" "0" "" "" "g.74462091G>T" "" "likely pathogenic (recessive)" "" "0000881914" "21" "90" "2" "74691832" "74691832" "subst" "1.6378E-5" "00006" "MOGS_000005" "g.74691832G>A" "" "{PMID:Sadat 2014:24716661}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000881915" "11" "50" "2" "74692046" "74692046" "subst" "0" "00006" "MOGS_000006" "g.74692046C>T" "" "{PMID:Sadat 2014:24716661}" "" "" "protein reported to be rapidly degraded by proteasome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000881916" "11" "90" "2" "74692310" "74692310" "subst" "1.56821E-5" "00006" "MOGS_000004" "g.74692310G>T" "" "{PMID:Sadat 2014:24716661}" "" "" "variant generates exonic splicing silencer" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000885408" "0" "10" "2" "74689671" "74689671" "subst" "0.00346345" "02326" "INO80B_000005" "g.74689671G>C" "" "" "" "MOGS(NM_006302.3):c.1245C>G (p.I415M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885409" "0" "30" "2" "74689719" "74689719" "subst" "2.03245E-5" "02326" "INO80B_000026" "g.74689719A>G" "" "" "" "MOGS(NM_006302.3):c.1197T>C (p.L399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923785" "0" "30" "2" "74689807" "74689807" "subst" "0" "02326" "INO80B_000027" "g.74689807T>C" "" "" "" "MOGS(NM_006302.3):c.1109A>G (p.E370G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975432" "0" "30" "2" "74689335" "74689335" "subst" "0.0020104" "01804" "INO80B_000017" "g.74689335G>T" "" "" "" "MOGS(NM_006302.3):c.1581C>A (p.D527E, p.(Asp527Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975433" "0" "50" "2" "74691784" "74691784" "subst" "0" "01804" "INO80B_000028" "g.74691784C>T" "" "" "" "MOGS(NM_006302.3):c.418G>A (p.(Gly140Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993033" "0" "50" "2" "74686776" "74686776" "subst" "1.22043E-5" "01804" "INO80B_000029" "g.74686776G>C" "" "" "" "WBP1(NM_012477.3):c.76G>C (p.(Glu26Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993034" "0" "50" "2" "74686833" "74686833" "subst" "0" "01804" "INO80B_000030" "g.74686833G>A" "" "" "" "WBP1(NM_012477.3):c.133G>A (p.(Gly45Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993035" "0" "50" "2" "74689665" "74689665" "del" "0" "01804" "INO80B_000031" "g.74689665del" "" "" "" "MOGS(NM_006302.2):c.1252delG (p.(Glu418fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993036" "0" "50" "2" "74689667" "74689668" "ins" "0" "01804" "INO80B_000032" "g.74689667_74689668insA" "" "" "" "MOGS(NM_006302.2):c.1248_1249insT (p.(Val417fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033494" "0" "50" "2" "74691795" "74691795" "subst" "0" "01804" "INO80B_000033" "g.74691795G>A" "" "" "" "MOGS(NM_006302.3):c.407C>T (p.(Thr136Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050706" "0" "50" "2" "74691766" "74691766" "subst" "2.84419E-5" "01804" "INO80B_000019" "g.74691766A>C" "" "" "" "MOGS(NM_006302.3):c.436T>G (p.(Tyr146Asp), p.Y146D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MOGS ## Count = 76 "{{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}}" "0000341555" "00013760" "50" "2062" "0" "2062" "0" "c.2062G>A" "r.(?)" "p.(Ala688Thr)" "" "0000516971" "00013760" "30" "2372" "0" "2372" "0" "c.2372T>C" "r.(?)" "p.(Val791Ala)" "" "0000516977" "00013760" "30" "525" "0" "525" "0" "c.525G>A" "r.(?)" "p.(Arg175=)" "" "0000516978" "00013760" "90" "480" "0" "481" "0" "c.480_481del" "r.(?)" "p.(Ile161ProfsTer10)" "" "0000516979" "00013760" "30" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Met)" "" "0000516980" "00013760" "30" "65" "0" "65" "0" "c.65C>A" "r.(?)" "p.(Ala22Glu)" "" "0000516982" "00013760" "30" "12" "0" "12" "0" "c.12C>G" "r.(?)" "p.(Gly4=)" "" "0000608133" "00013760" "30" "870" "0" "871" "0" "c.870_871insCCTG" "r.(?)" "p.(Gly291ProfsTer6)" "" "0000621121" "00013760" "30" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Tyr685=)" "" "0000654723" "00013760" "30" "12" "0" "12" "0" "c.12C>G" "r.(?)" "p.(Gly4=)" "" "0000676723" "00013760" "50" "2389" "0" "2389" "0" "c.2389C>T" "r.(?)" "p.(Arg797Cys)" "" "0000688859" "00013760" "30" "1581" "0" "1581" "0" "c.1581C>A" "r.(?)" "p.(Asp527Glu)" "" "0000688860" "00013760" "50" "1472" "0" "1472" "0" "c.1472G>T" "r.(?)" "p.(Gly491Val)" "" "0000688861" "00013760" "50" "436" "0" "436" "0" "c.436T>G" "r.(?)" "p.(Tyr146Asp)" "" "0000719068" "00013760" "50" "1698" "0" "1698" "0" "c.1698C>A" "r.(?)" "p.(Asp566Glu)" "" "0000719069" "00013760" "30" "1000" "0" "1000" "0" "c.1000T>G" "r.(?)" "p.(Phe334Val)" "" "0000800829" "00013760" "30" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(Glu648=)" "" "0000800830" "00013760" "30" "894" "0" "894" "0" "c.894C>T" "r.(?)" "p.(Leu298=)" "" "0000858703" "00013760" "50" "6425" "0" "6425" "0" "c.*3911G>A" "r.(=)" "p.(=)" "" "0000858704" "00013760" "30" "6245" "0" "6245" "0" "c.*3731G>T" "r.(=)" "p.(=)" "" "0000881869" "00013760" "90" "65" "0" "65" "0" "c.65C>A" "r.(?)" "p.(Ala22Glu)" "" "0000881870" "00013760" "90" "65" "0" "65" "0" "c.65C>A" "r.(?)" "p.(Ala22Glu)" "" "0000881871" "00013760" "90" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596Gln)" "" "0000881872" "00013760" "90" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Arg700Ter)" "" "0000881873" "00013760" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Gln124Ter)" "" "0000881874" "00013760" "90" "882" "0" "882" "0" "c.882del" "r.(?)" "p.(Glu295AsnfsTer10)" "" "0000881875" "00013760" "90" "1766" "0" "1766" "0" "c.1766C>T" "r.(?)" "p.(Ser589Leu)" "" "0000881876" "00013760" "90" "1461" "0" "1461" "0" "c.1461G>C" "r.(?)" "p.(Glu487Asp)" "" "0000881877" "00013760" "90" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0000881878" "00013760" "90" "2090" "0" "2090" "0" "c.2090T>C" "r.(?)" "p.(Leu697Ser)" "" "0000881879" "00013760" "90" "1212" "0" "1239" "0" "c.1212_1239dup" "r.(?)" "p.(Asp414LeufsTer17)" "" "0000881880" "00013760" "90" "224" "0" "224" "0" "c.224A>C" "r.(?)" "p.(His75Pro)" "" "0000881881" "00013760" "90" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Arg486Thr)" "" "0000881882" "00013760" "90" "2405" "0" "2405" "0" "c.2405C>T" "r.(?)" "p.(Thr802Ile)" "" "0000881883" "00013760" "90" "1212" "0" "1239" "0" "c.1212_1239dup" "r.(?)" "p.(Asp414LeufsTer17)" "" "0000881884" "00013760" "90" "1212" "0" "1239" "0" "c.1212_1239dup" "r.(?)" "p.(Asp414LeufsTer17)" "" "0000881885" "00013760" "90" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565Gln)" "" "0000881886" "00013760" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Ter)" "" "0000881887" "00013760" "90" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Pro513Ser)" "" "0000881888" "00013760" "90" "1514" "0" "1516" "0" "c.1514_1516del" "r.(?)" "p.(Gln505del)" "" "0000881889" "00013760" "90" "1514" "0" "1516" "0" "c.1514_1516del" "r.(?)" "p.(Gln505del)" "" "0000881890" "00013760" "90" "1514" "0" "1516" "0" "c.1514_1516del" "r.(?)" "p.(Gln505del)" "" "0000881891" "00013760" "90" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110His)" "" "0000881892" "00013760" "90" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110His)" "" "0000881893" "00013760" "90" "1801" "0" "1801" "0" "c.1801C>T" "r.(?)" "p.(Arg601Ter)" "" "0000881894" "00013760" "90" "1461" "0" "1461" "0" "c.1461G>C" "r.(?)" "p.(Glu487Asp)" "" "0000881895" "00013760" "90" "1681" "0" "1681" "0" "c.1681C>T" "r.(?)" "p.(Arg561Cys)" "" "0000881896" "00013760" "90" "2126" "0" "2126" "0" "c.2126T>C" "r.(?)" "p.(Leu709Pro)" "" "0000881897" "00013760" "90" "1348" "0" "1348" "0" "c.1348T>G" "r.(?)" "p.(Trp450Gly)" "" "0000881898" "00013760" "90" "1286" "0" "1287" "0" "c.1286_1287del" "r.(?)" "p.(Phe429SerfsTer23)" "" "0000881899" "00013760" "90" "1954" "0" "1954" "0" "c.1954T>C" "r.(?)" "p.(Phe652Leu)" "" "0000881900" "00013760" "90" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Ter)" "" "0000881901" "00013760" "70" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Gly182Arg)" "" "0000881902" "00013760" "70" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Gly182Arg)" "" "0000881903" "00013760" "90" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0000881904" "00013760" "90" "2255" "0" "2255" "0" "c.2255G>A" "r.(?)" "p.(Gly752Asp)" "" "0000881905" "00013760" "90" "2471" "0" "2471" "0" "c.2471G>A" "r.(?)" "p.(Gly824Asp)" "" "0000881906" "00013760" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Ter)" "" "0000881907" "00013760" "90" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Ter)" "" "0000881908" "00013760" "90" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Ter)" "" "0000881909" "00013760" "70" "1698" "0" "1698" "0" "c.1698C>A" "r.(?)" "p.(Asp566Glu)" "" "0000881910" "00013760" "70" "1698" "0" "1698" "0" "c.1698C>A" "r.(?)" "p.(Asp566Glu)" "" "0000881914" "00013760" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Gln124*)" "" "0000881915" "00013760" "50" "329" "0" "329" "0" "c.329G>A" "r.329g>a" "p.Arg110His" "" "0000881916" "00013760" "90" "65" "0" "65" "0" "c.65C>A" "r.[352_353ins352+1_353-1,=]" "p.[Leu119fs,=]" "" "0000885408" "00013760" "10" "1245" "0" "1245" "0" "c.1245C>G" "r.(?)" "p.(Ile415Met)" "" "0000885409" "00013760" "30" "1197" "0" "1197" "0" "c.1197T>C" "r.(?)" "p.(Leu399=)" "" "0000923785" "00013760" "30" "1109" "0" "1109" "0" "c.1109A>G" "r.(?)" "p.(Glu370Gly)" "" "0000975432" "00013760" "30" "1581" "0" "1581" "0" "c.1581C>A" "r.(?)" "p.(Asp527Glu)" "" "0000975433" "00013760" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "" "0000993033" "00013760" "50" "4140" "0" "4140" "0" "c.*1626C>G" "r.(=)" "p.(=)" "" "0000993034" "00013760" "50" "4083" "0" "4083" "0" "c.*1569C>T" "r.(=)" "p.(=)" "" "0000993035" "00013760" "50" "1252" "0" "1252" "0" "c.1252del" "r.(?)" "p.(Glu418Lysfs*61)" "" "0000993036" "00013760" "50" "1248" "0" "1249" "0" "c.1248_1249insT" "r.(?)" "p.(Val417Cysfs*5)" "" "0001033494" "00013760" "50" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Thr136Met)" "" "0001050706" "00013760" "50" "436" "0" "436" "0" "c.436T>G" "r.(?)" "p.(Tyr146Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000421238" "0000881869" "0000421238" "0000881891" "0000421239" "0000881870" "0000421239" "0000881892" "0000421240" "0000881871" "0000421240" "0000881893" "0000421241" "0000881872" "0000421242" "0000881873" "0000421242" "0000881894" "0000421243" "0000881874" "0000421243" "0000881895" "0000421244" "0000881875" "0000421245" "0000881876" "0000421246" "0000881877" "0000421246" "0000881896" "0000421247" "0000881878" "0000421248" "0000881879" "0000421248" "0000881897" "0000421249" "0000881880" "0000421249" "0000881898" "0000421250" "0000881881" "0000421250" "0000881899" "0000421251" "0000881882" "0000421251" "0000881900" "0000421252" "0000881883" "0000421252" "0000881901" "0000421252" "0000881909" "0000421253" "0000881884" "0000421253" "0000881902" "0000421253" "0000881910" "0000421254" "0000881885" "0000421254" "0000881903" "0000421255" "0000881886" "0000421255" "0000881904" "0000421256" "0000881887" "0000421256" "0000881905" "0000421257" "0000881888" "0000421257" "0000881906" "0000421258" "0000881889" "0000421258" "0000881907" "0000421259" "0000881890" "0000421259" "0000881908" "0000421260" "0000881914" "0000421260" "0000881915" "0000421260" "0000881916"