### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GPT2) # 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}}" "GPT2" "glutamic pyruvate transaminase (alanine aminotransferase) 2" "16" "q12.1" "unknown" "NG_042110.1" "UD_136087325486" "" "https://www.LOVD.nl/GPT2" "" "1" "18062" "84706" "138210" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GPT2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-09-24 21:07:12" "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}}" "00025465" "GPT2" "transcript variant 1" "001" "NM_133443.2" "" "NP_597700.1" "" "" "" "-94" "3864" "1572" "46918308" "46965201" "00006" "2019-09-24 21:06:37" "" "" ## 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" "04492" "MRT49" "mental retardation?, autosomal recessive, type 49 (MRT-49)" "AR" "616281" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GPT2" "04492" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00265401" "" "" "" "4" "" "03388" "{PMID:Binaafar 2020:31978613}" "4-generation family, 4 affected sibs (3F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "07y?" "0" "no" "none" "" "GPT2-ID" "00265402" "" "" "" "1" "" "03388" "" "" "M" "yes" "Iran" "" "0" "" "" "" "GPT2-ID1" "00318011" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR281" "00387868" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M9000007" "00426127" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "16SS2600" "00453034" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 2 affected brothers, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00265401" "00139" "00265402" "00139" "00318011" "00139" "00387868" "00139" "00426127" "00139" "00453034" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04492, 05611 ## Count = 6 "{{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}}" "0000203214" "00139" "00265401" "03388" "Familial, autosomal recessive" "07y?" "moderate intellectual disability (HP:0002342); no motor delay (-HP:0001270); mild speech delay (HP:0000750)" "" "" "" "" "" "" "" "MRT-49" "non-syndromic intellectual disability" "0000203215" "00139" "00265402" "03388" "Familial, autosomal recessive" "?" "severe intellectual disability (HP:0010864); no motor delay (-HP:0001270); mild speech delay (HP:0000750)" "" "" "" "" "" "" "" "MRT-49" "non-syndromic intellectual disability" "0000241795" "00139" "00318011" "00006" "Familial, autosomal recessive" "" "III:6: mild ID, speech delay, epilepsy; III:10 & III:11: slow learner & aggressive" "" "" "" "" "" "" "" "" "intellectual disability" "0000281436" "00139" "00387868" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-3.0), epilepsy" "" "" "" "" "" "" "" "" "intellectual disability" "0000317277" "00139" "00426127" "00006" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder with microcephaly and spastic paraplegia" "intellectual disability" "0000341679" "05611" "00453034" "03566" "Familial, autosomal recessive" "" "severe intellectual disability, delayed developmental milestones with motor delay, speech problems, postnatal microcephaly, hypotonia, aggressive behaviour, spastic paraplegia (one patient)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000266526" "00265401" "1" "03388" "03388" "2019-09-24 18:35:08" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000266528" "00265402" "1" "03388" "03388" "2019-09-24 18:59:38" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000319193" "00318011" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389099" "00387868" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427447" "00426127" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454645" "00453034" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000266526" "GPT2" "0000266528" "GPT2" "0000319193" "GPT2" "0000389099" "GPT2" ## 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 = 10 "{{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}}" "0000324754" "0" "50" "16" "46934664" "46934664" "subst" "0" "01804" "GPT2_000001" "g.46934664C>T" "" "" "" "GPT2(NM_133443.2):c.404C>T (p.(Ala135Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46900752C>T" "" "VUS" "" "0000558262" "0" "50" "16" "46934622" "46934622" "subst" "0" "01943" "GPT2_000002" "g.46934622T>C" "" "" "" "GPT2(NM_133443.3):c.362T>C (p.L121P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46900710T>C" "" "VUS" "" "0000558263" "0" "50" "16" "46962819" "46962819" "subst" "4.06197E-6" "01943" "GPT2_000003" "g.46962819G>C" "" "" "" "GPT2(NM_133443.3):c.1482G>C (p.R494S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46928907G>C" "" "VUS" "" "0000597219" "3" "70" "16" "46931582" "46931582" "subst" "0" "03388" "GPT2_000004" "g.46931582A>G" "" "{PMID:Binaafar 2020:31978613}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46897670A>G" "" "likely pathogenic (recessive)" "" "0000597225" "3" "70" "16" "46931582" "46931582" "subst" "0" "03388" "GPT2_000004" "g.46931582A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46897670A>G" "" "likely pathogenic (recessive)" "" "0000701857" "3" "50" "16" "46956326" "46956326" "subst" "3.73199E-5" "00006" "GPT2_000005" "g.46956326C>T" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.46922414C>T" "" "VUS" "" "0000817892" "3" "90" "16" "46918859" "46918859" "subst" "0" "00006" "GPT2_000006" "g.46918859G>T" "" "{PMID:Hu 2019:29302074}" "" "" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.46884947G>T" "" "likely pathogenic (recessive)" "" "0000904807" "3" "70" "16" "46952667" "46952667" "subst" "2.03474E-5" "00006" "GPT2_000007" "g.46952667C>T" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001142466.3:c.735C>T (Gly245=)" "" "Germline" "" "rs778652804" "0" "" "" "g.46918755C>T" "" "VUS" "" "0000989534" "3" "90" "16" "46943834" "46943834" "subst" "0" "03566" "GPT2_000009" "g.46943834C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46909922C>T" "" "pathogenic (recessive)" "" "0001041147" "0" "70" "16" "46960903" "46960903" "subst" "0" "01804" "GPT2_000010" "g.46960903G>A" "" "" "" "GPT2(NM_133443.4):c.1435G>A (p.(Val479Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 GPT2 ## Count = 10 "{{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}}" "0000324754" "00025465" "50" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ala135Val)" "" "0000558262" "00025465" "50" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Leu121Pro)" "" "0000558263" "00025465" "50" "1482" "0" "1482" "0" "c.1482G>C" "r.(?)" "p.(Arg494Ser)" "" "0000597219" "00025465" "70" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Glu89Gly)" "" "0000597225" "00025465" "70" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Glu89Gly)" "" "0000701857" "00025465" "50" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404*)" "" "0000817892" "00025465" "90" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Glu78Ter)" "" "0000904807" "00025465" "70" "1035" "0" "1035" "0" "c.1035C>T" "r.(=)" "p.(=)" "" "0000989534" "00025465" "90" "815" "0" "815" "0" "c.815C>T" "r.(?)" "p.(Pro272Leu)" "" "0001041147" "00025465" "70" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Val479Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000266526" "0000597219" "0000266528" "0000597225" "0000319193" "0000701857" "0000389099" "0000817892" "0000427447" "0000904807" "0000454645" "0000989534"