### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CASP2) # 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}}" "CASP2" "caspase 2, apoptosis-related cysteine peptidase" "7" "q34-q35" "unknown" "NC_000007.13" "UD_132119150202" "" "https://www.LOVD.nl/CASP2" "" "1" "1503" "835" "600639" "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/CASP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-26 09:10:44" "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}}" "00004378" "CASP2" "transcript variant 1" "001" "NM_032982.3" "" "NP_116764.2" "" "" "" "-241" "3984" "1359" "142985308" "143004789" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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}}" "CASP2" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00443399" "" "" "" "1" "" "00006" "{PMID:Uctepe 2023:37880421}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Fam1PatII3" "00443400" "" "" "" "1" "" "00006" "{PMID:Uctepe 2023:37880421}" "2-generation family, 1 affected, unaffected heterozygous mother" "M" "" "France" "" "0" "" "" "" "Fam2PatII1" "00443401" "" "" "" "1" "" "00006" "{PMID:Uctepe 2023:37880421}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam3PatII1" "00443402" "" "" "" "2" "" "00006" "{PMID:Uctepe 2023:37880421}" "2-generation family, affected sister/brother, unaffected heterozygous parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam3PatII2" "00443403" "" "" "00443402" "1" "" "00006" "{PMID:Uctepe 2023:37880421}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam4PatII1" "00443404" "" "" "" "2" "" "00006" "{PMID:Uctepe 2023:37880421}" "2-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam4PatII2" "00443405" "" "" "00443404" "1" "" "00006" "{PMID:Uctepe 2023:37880421}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam5PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00443399" "05611" "00443400" "05611" "00443401" "05611" "00443402" "05611" "00443403" "05611" "00443404" "05611" "00443405" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000332740" "05611" "00443399" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., mild intellectual disability; no autistic features; ADHD; no aggressive behavior; no seizure; synophrys, laterally flared thick eyebrows, upslanting palpebral fissures, prominent nasal tip, thin upper lip, chin dimple, low-set, posteriorly rotated ears, thin ear helix; bilateral pachygyria, mild cortical thickening fronto-temporal lobes; MRI brain normal corpus callosum, prominent subcortical perivascular space" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000332741" "05611" "00443400" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., global developmental delay, moderate intellectual disability; autistic features; no ADHD; aggressive behavior; intolerance to frustration, poor social skills; no seizure; hypotonia, weakness, spasticity, hyperreflexia; no dysmorphic features; bilateral pachygyria, mild cortical thickening fronto-temporal lobes; MRI brain normal corpus callosum" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000332742" "05611" "00443401" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000332743" "05611" "00443402" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000332744" "05611" "00443403" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000332745" "05611" "00443404" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000332746" "05611" "00443405" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., developmental delay; no autistic features; no ADHD; no aggressive behavior; seizure; hypotonia, poor vision, bilateral optic atrophy, abnormal uncoordinated gait; no dysmorphic features; bilateral pachygyria, mild cortical thickening fronto-temporal lobes; MRI brain normal corpus callosum, hydrocephaly" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000444888" "00443399" "1" "00006" "00006" "2023-11-26 09:10:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444889" "00443400" "1" "00006" "00006" "2023-11-26 09:10:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000444890" "00443401" "1" "00006" "00006" "2023-11-26 09:10:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444891" "00443402" "1" "00006" "00006" "2023-11-26 09:10:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444892" "00443403" "1" "00006" "00006" "2023-11-26 09:10:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444893" "00443404" "1" "00006" "00006" "2023-11-26 09:10:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444894" "00443405" "1" "00006" "00006" "2023-11-26 09:10:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 13 "{{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}}" "0000531066" "0" "30" "7" "142983220" "142983220" "subst" "2.43633E-5" "01804" "TMEM139_000001" "g.142983220G>A" "" "" "" "TMEM139(NM_001242773.2):c.170G>A (p.(Arg57Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143286127G>A" "" "likely benign" "" "0000531067" "0" "30" "7" "142997047" "142997047" "subst" "0" "01804" "CASP2_000001" "g.142997047A>T" "" "" "" "CASP2(NM_001224.4):c.686A>T (p.(Gln229Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143299954A>T" "" "likely benign" "" "0000610888" "0" "30" "7" "142983150" "142983150" "subst" "0.000483206" "01804" "TMEM139_000003" "g.142983150G>T" "" "" "" "TMEM139(NM_001242773.2):c.100G>T (p.(Asp34Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143286057G>T" "" "likely benign" "" "0000721319" "0" "30" "7" "142983735" "142983735" "subst" "0.00103171" "01943" "TMEM139_000001" "g.142983735G>A" "" "" "" "TMEM139(NM_001282876.2):c.464G>A (p.S155N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946816" "3" "90" "7" "143001805" "143001805" "del" "0" "00006" "CASP2_000004" "g.143001805del" "" "{PMID:Uctepe 2023:37880421}" "" "" "" "Germline" "" "" "0" "" "" "g.143304712del" "" "pathogenic (recessive)" "" "0000946817" "10" "90" "7" "142988688" "142988688" "subst" "0" "00006" "CASP2_000002" "g.142988688C>T" "" "{PMID:Uctepe 2023:37880421}" "" "" "" "Germline" "" "" "0" "" "" "g.143291595C>T" "" "pathogenic (recessive)" "" "0000946818" "3" "90" "7" "143001823" "143001823" "subst" "0" "00006" "CASP2_000005" "g.143001823C>T" "" "{PMID:Uctepe 2023:37880421}" "" "" "" "Germline" "" "" "0" "" "" "g.143304730C>T" "" "pathogenic (recessive)" "" "0000946819" "3" "90" "7" "143001823" "143001823" "subst" "0" "00006" "CASP2_000005" "g.143001823C>T" "" "{PMID:Uctepe 2023:37880421}" "" "" "" "Germline" "" "" "0" "" "" "g.143304730C>T" "" "pathogenic (recessive)" "" "0000946820" "3" "90" "7" "143001823" "143001823" "subst" "0" "00006" "CASP2_000005" "g.143001823C>T" "" "{PMID:Uctepe 2023:37880421}" "" "" "" "Germline" "" "" "0" "" "" "g.143304730C>T" "" "pathogenic (recessive)" "" "0000946821" "3" "90" "7" "143001823" "143001823" "subst" "0" "00006" "CASP2_000005" "g.143001823C>T" "" "{PMID:Uctepe 2023:37880421}" "" "" "" "Germline" "" "" "0" "" "" "g.143304730C>T" "" "pathogenic (recessive)" "" "0000946822" "3" "90" "7" "143001823" "143001823" "subst" "0" "00006" "CASP2_000005" "g.143001823C>T" "" "{PMID:Uctepe 2023:37880421}" "" "" "" "Germline" "" "" "0" "" "" "g.143304730C>T" "" "pathogenic (recessive)" "" "0000946823" "21" "90" "7" "142997145" "142997145" "subst" "0" "00006" "CASP2_000003" "g.142997145G>T" "" "{PMID:Uctepe 2023:37880421}" "" "" "" "Germline" "" "" "0" "" "" "g.143300052G>T" "" "pathogenic (recessive)" "" "0000977555" "0" "30" "7" "142989563" "142989563" "subst" "0" "01804" "CASP2_000006" "g.142989563A>G" "" "" "" "CASP2(NM_032982.4):c.393+3A>G" "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 CASP2 ## Count = 13 "{{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}}" "0000531066" "00004378" "30" "-2329" "0" "-2329" "0" "c.-2329G>A" "r.(?)" "p.(=)" "" "0000531067" "00004378" "30" "779" "0" "779" "0" "c.779A>T" "r.(?)" "p.(Gln260Leu)" "" "0000610888" "00004378" "30" "-2399" "0" "-2399" "0" "c.-2399G>T" "r.(?)" "p.(=)" "" "0000721319" "00004378" "30" "-1814" "0" "-1814" "0" "c.-1814G>A" "r.(?)" "p.(=)" "" "0000946816" "00004378" "90" "1156" "0" "1156" "0" "c.1156del" "r.(?)" "p.(Tyr386ThrfsTer25)" "" "0000946817" "00004378" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Ter)" "" "0000946818" "00004378" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Gln392Ter)" "" "0000946819" "00004378" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Gln392Ter)" "" "0000946820" "00004378" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Gln392Ter)" "" "0000946821" "00004378" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Gln392Ter)" "" "0000946822" "00004378" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Gln392Ter)" "" "0000946823" "00004378" "90" "876" "1" "876" "1" "c.876+1G>T" "r.[833_876del,856_876del]" "p.[Gly278AlafsTer9,Gly285AlafsTer9]" "" "0000977555" "00004378" "30" "393" "3" "393" "3" "c.393+3A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000444888" "0000946816" "0000444889" "0000946817" "0000444889" "0000946823" "0000444890" "0000946818" "0000444891" "0000946819" "0000444892" "0000946820" "0000444893" "0000946821" "0000444894" "0000946822"