### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GCSH)
# 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}}"
"GCSH" "glycine cleavage system protein H (aminomethyl carrier)" "16" "q23.2" "unknown" "NG_016427.1" "UD_132085375023" "{PMID:Koyata et al. 1991:1671321}" "https://www.LOVD.nl/GCSH" "Finnish Disease Database (Findis) \r\nSee also AMT mutations \r\nSee also GLDC mutations " "1" "4208" "2653" "238330" "1" "1" "1" "1" "The 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.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/GCSH_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-08-30 00:00:00" "00006" "2019-07-21 20:28:52" "00000" "2024-04-19 20:27:30"
## 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}}"
"00000281" "GCSH" "transcript variant 1" "002" "NM_004483.4" "" "NP_004474.2" "" "" "" "-97" "1441" "522" "81129980" "81115552" "00008" "2012-08-30 17:03:42" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00035" "GCE" "encephalopathy, glycine (GCE)" "" "" "" "" "" "00008" "2012-08-30 16:13:48" "00006" "2024-11-25 10:14:19"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"05841" "glycine encephalopathy" "encephalopathy, glycine, with normal serum glycine" "AR" "617301" "" "" "" "00006" "2020-09-28 12:40:56" "" ""
"07138" "MMDS7" "mitochondrial dysfunctions, multiple, syndrome, type 7" "AR" "620423" "" "" "" "00006" "2024-11-25 10:13:05" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"GCSH" "00035"
"GCSH" "00139"
"GCSH" "07138"
## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00074415" "" "" "" "2" "" "00006" "{PMID:Koyata 1991:1671321}" "" "" "no" "Japan" "" "0" "" "" "" ""
"00074416" "" "" "" "1" "" "00006" "{PMID:Kure 2002:12402263}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/brother" "M" "no" "Japan" ">05y" "0" "" "" "Asian" ""
"00324958" "" "" "" "2" "" "03219" "" "" "F" "no" "India" "01y" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00074415" "00035"
"00074416" "00035"
"00324958" "05841"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00035, 00139, 05841, 07138
## Count = 2
"{{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}}"
"0000054233" "00035" "00074415" "00006" "Unknown" "" "one case glycine encephalopathy (605899), one case with NKH (deficiency of glycine decarboxylase)" "" "" "" "" "" "" "" "" ""
"0000054234" "00035" "00074416" "00006" "Unknown" "05y" "nonketotic hyperglycinemia (NKH), MRI no agenesis of corpus callosum, no delay in myelination; EEG neonatal burst suppression, currently normal on vitB6; severe intellectual disability, seizures responsive to vitB6" "00y00m01d" "" "convulsion, hypotonia" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000074576" "00074415" "1" "00006" "00006" "2016-06-28 20:44:57" "" "" "Southern" "DNA" "" ""
"0000074577" "00074416" "1" "00006" "00006" "2016-06-28 21:14:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000326168" "00324958" "1" "03219" "03219" "2020-12-29 09:33:58" "" "" "SEQ-NG-I" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000074576" "GCSH"
"0000074577" "GCSH"
"0000326168" "GCSH"
## 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 = 24
"{{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}}"
"0000118954" "0" "75" "16" "81116470" "81129883" "" "0" "00015" "GCSH_000000" "g.(?_81116470)_(81129883_?)del" "" "{PMID:Koyata 1991:1671321}, {OMIM238330:0001}" "" "deletion 5.0kb SacI fragment" "2 Japanese GCE patients" "SUMMARY record" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000118956" "21" "99" "16" "81116569" "81116569" "subst" "0" "00015" "GCSH_000001" "g.81116569C>A" "" "{PMID:Kure 2002:12402263}" "" "IVS4-1G>T" "1 Asian (Japanese) GCE patient; mRNA not detectable" "SUMMARY record" "?" "" "0" "" "" "g.81082964C>A" "" "pathogenic" ""
"0000118957" "10" "10" "16" "81129822" "81129822" "subst" "0.54127" "00006" "GCSH_000002" "g.81129822G>A" "" "{PMID:Kure 2002:12402263}" "" "" "" "Germline" "" "" "0" "" "" "g.81096217G>A" "" "benign" ""
"0000251595" "0" "10" "16" "81124152" "81124152" "subst" "0" "02326" "GCSH_000011" "g.81124152A>G" "" "" "" "GCSH(NM_004483.4):c.228+54T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81090547A>G" "" "benign" ""
"0000252282" "0" "30" "16" "81121113" "81121113" "del" "0" "02326" "GCSH_000007" "g.81121113del" "" "" "" "GCSH(NM_004483.4):c.292+104delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81087508del" "" "likely benign" ""
"0000252283" "0" "30" "16" "81121436" "81121436" "subst" "0" "02326" "GCSH_000010" "g.81121436A>G" "" "" "" "GCSH(NM_004483.4):c.229-167T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81087831A>G" "" "likely benign" ""
"0000284612" "0" "30" "16" "81129759" "81129759" "subst" "0" "02326" "GCSH_000014" "g.81129759C>A" "" "" "" "GCSH(NM_004483.4):c.125G>T (p.R42L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81096154C>A" "" "likely benign" ""
"0000284613" "0" "30" "16" "81124275" "81124275" "subst" "0.0541554" "02326" "GCSH_000013" "g.81124275G>A" "" "" "" "GCSH(NM_004483.4):c.159C>T (p.F53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81090670G>A" "" "likely benign" ""
"0000284614" "0" "10" "16" "81124216" "81124216" "subst" "0.0114845" "02326" "GCSH_000012" "g.81124216T>C" "" "" "" "GCSH(NM_004483.4):c.218A>G (p.N73S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81090611T>C" "" "benign" ""
"0000284615" "0" "30" "16" "81121112" "81121113" "del" "0" "02326" "GCSH_000008" "g.81121112_81121113del" "" "" "" "GCSH(NM_004483.4):c.292+103_292+104delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81087507_81087508del" "" "likely benign" ""
"0000284617" "0" "10" "16" "81117832" "81117832" "subst" "0" "02326" "GCSH_000005" "g.81117832C>A" "" "" "" "GCSH(NM_004483.4):c.424+236G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81084227C>A" "" "benign" ""
"0000284618" "0" "10" "16" "81116778" "81116778" "del" "0" "02326" "GCSH_000004" "g.81116778del" "" "" "" "GCSH(NM_004483.4):c.425-209delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81083173del" "" "benign" ""
"0000284619" "0" "30" "16" "81116576" "81116576" "subst" "1.62664E-5" "02326" "GCSH_000003" "g.81116576C>G" "" "" "" "GCSH(NM_004483.4):c.425-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81082971C>G" "" "likely benign" ""
"0000284620" "0" "10" "16" "81129831" "81129831" "subst" "0.00219298" "02326" "GCSH_000015" "g.81129831G>A" "" "" "" "GCSH(NM_004483.4):c.53C>T (p.(Ala18Val), p.A18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81096226G>A" "" "benign" ""
"0000284621" "0" "10" "16" "81129822" "81129822" "subst" "0.54127" "02326" "GCSH_000002" "g.81129822G>A" "" "" "" "GCSH(NM_004483.4):c.62C>T (p.S21L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81096217G>A" "" "benign" ""
"0000288266" "0" "50" "16" "81118154" "81118154" "subst" "1.22297E-5" "01943" "GCSH_000006" "g.81118154T>C" "" "" "" "GCSH(NM_004483.4):c.338A>G (p.Y113C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81084549T>C" "" "VUS" ""
"0000324933" "0" "50" "16" "81129831" "81129831" "subst" "0.00219298" "01804" "GCSH_000015" "g.81129831G>A" "" "" "" "GCSH(NM_004483.4):c.53C>T (p.(Ala18Val), p.A18V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81096226G>A" "" "VUS" ""
"0000559242" "0" "10" "16" "81121145" "81121145" "subst" "0" "02326" "GCSH_000017" "g.81121145T>C" "" "" "" "GCSH(NM_004483.4):c.292+61A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81087540T>C" "" "benign" ""
"0000559243" "0" "30" "16" "81124304" "81124304" "subst" "3.24936E-5" "02326" "GCSH_000018" "g.81124304A>G" "" "" "" "GCSH(NM_004483.4):c.149-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81090699A>G" "" "likely benign" ""
"0000559245" "0" "10" "16" "81129800" "81129800" "subst" "0.130147" "01943" "GCSH_000019" "g.81129800C>T" "" "" "" "GCSH(NM_004483.4):c.84G>A (p.P28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81096195C>T" "" "benign" ""
"0000559246" "0" "10" "16" "81129800" "81129800" "subst" "0.130147" "02326" "GCSH_000019" "g.81129800C>T" "" "" "" "GCSH(NM_004483.4):c.84G>A (p.P28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81096195C>T" "" "benign" ""
"0000559247" "0" "30" "16" "81129851" "81129851" "subst" "0" "01943" "GCSH_000016" "g.81129851G>A" "" "" "" "GCSH(NM_004483.4):c.33C>T (p.A11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81096246G>A" "" "likely benign" ""
"0000709416" "3" "70" "16" "81129883" "81129883" "subst" "0" "03219" "GCSH_000020" "g.81129883T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.81096278T>C" "{CV:000265685}" "pathogenic" "ACMG"
"0000807611" "0" "30" "16" "81129798" "81129798" "subst" "0" "01943" "GCSH_000021" "g.81129798C>T" "" "" "" "GCSH(NM_004483.4):c.86G>A (p.R29K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes GCSH
## Count = 24
"{{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}}"
"0000118954" "00000281" "75" "1" "0" "523" "0" "c.(?_1)_(*1_?)del" "r.0?" "p.0?" "_1_5_"
"0000118956" "00000281" "99" "425" "-1" "425" "-1" "c.425-1G>T" "r.0" "p.0" "4i"
"0000118957" "00000281" "10" "62" "0" "62" "0" "c.62C>T" "r.62c>u" "p.Ser21Leu" "1"
"0000251595" "00000281" "10" "228" "54" "228" "54" "c.228+54T>C" "r.(=)" "p.(=)" ""
"0000252282" "00000281" "30" "292" "104" "292" "104" "c.292+104del" "r.(=)" "p.(=)" ""
"0000252283" "00000281" "30" "229" "-167" "229" "-167" "c.229-167T>C" "r.(=)" "p.(=)" ""
"0000284612" "00000281" "30" "125" "0" "125" "0" "c.125G>T" "r.(?)" "p.(Arg42Leu)" ""
"0000284613" "00000281" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Phe53=)" ""
"0000284614" "00000281" "10" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Asn73Ser)" ""
"0000284615" "00000281" "30" "292" "103" "292" "104" "c.292+103_292+104del" "r.(=)" "p.(=)" ""
"0000284617" "00000281" "10" "424" "236" "424" "236" "c.424+236G>T" "r.(=)" "p.(=)" ""
"0000284618" "00000281" "10" "425" "-209" "425" "-209" "c.425-209del" "r.(=)" "p.(=)" ""
"0000284619" "00000281" "30" "425" "-8" "425" "-8" "c.425-8G>C" "r.(=)" "p.(=)" ""
"0000284620" "00000281" "10" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ala18Val)" ""
"0000284621" "00000281" "10" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ser21Leu)" ""
"0000288266" "00000281" "50" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Tyr113Cys)" ""
"0000324933" "00000281" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ala18Val)" ""
"0000559242" "00000281" "10" "292" "61" "292" "61" "c.292+61A>G" "r.(=)" "p.(=)" ""
"0000559243" "00000281" "30" "149" "-19" "149" "-19" "c.149-19T>C" "r.(=)" "p.(=)" ""
"0000559245" "00000281" "10" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(Pro28=)" ""
"0000559246" "00000281" "10" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(Pro28=)" ""
"0000559247" "00000281" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Ala11=)" ""
"0000709416" "00000281" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "1"
"0000807611" "00000281" "30" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Arg29Lys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{variantid}}"
"0000074576" "0000118954"
"0000074577" "0000118956"
"0000074577" "0000118957"
"0000326168" "0000709416"