### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EXOC8) # 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}}" "EXOC8" "exocyst complex component 8" "1" "q42.2" "unknown" "NC_000001.10" "UD_132319261390" "" "https://www.LOVD.nl/EXOC8" "" "1" "24659" "149371" "615283" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-07-18 13:40:19" "00000" "2026-01-20 18:57:21" ## 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}}" "00007307" "EXOC8" "exocyst complex component 8" "001" "NM_175876.3" "" "NP_787072.2" "" "" "" "-87" "5010" "2178" "231473578" "231468482" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06946" "NEDMISB" "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" "AR" "619076" "" "" "" "00006" "2022-07-18 13:36:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EXOC8" "05611" "EXOC8" "06946" ## 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}}" "00413435" "" "" "" "1" "" "00006" "{PMID:Ullah 2022:35460391}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00413436" "" "" "" "3" "" "00006" "{PMID:Coulter 2020:32103185}" "5-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "" "FamV" "00426182" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "yes" "Oman" "" "0" "" "" "" "10MS2400" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00413435" "05611" "00413436" "00198" "00426182" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 06946 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000305409" "05611" "00413435" "00006" "Familial, autosomal recessive" "" "see paper; ..., neurodevelopmental disorder, microcephaly, mandibular hypoplasia, weakness of muscles, malocclusion of teeth, drooling of saliva, urinary incontinence" "" "" "" "" "" "" "" "" "NEDMISB" "neurodevelopmental delay" "" "0000305410" "00198" "00413436" "00006" "Familial, autosomal recessive" "" "see paper; ..., global developmental delay with regression, seizures, microcephaly" "" "" "" "" "" "" "" "" "" "global developmental delay" "" "0000317332" "00139" "00426182" "00006" "Familial, autosomal recessive" "4y" "Severe acquired microcephaly, severe delay, seizures, optic nerve atrophy, and hypotonia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## 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}}" "0000414712" "00413435" "1" "00006" "00006" "2022-07-18 13:44:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000414713" "00413436" "1" "00006" "00006" "2022-07-18 13:53:46" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000427502" "00426182" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "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 = 7 "{{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}}" "0000505904" "0" "30" "1" "231474181" "231474181" "subst" "0" "01943" "EGLN1_000025" "g.231474181C>A" "" "" "" "SPRTN(NM_001010984.3):c.52C>A (p.Q18K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.231338435C>A" "" "likely benign" "" "0000799163" "0" "50" "1" "231473430" "231473430" "subst" "8.46998E-6" "01943" "EGLN1_000028" "g.231473430C>A" "" "" "" "EXOC8(NM_175876.4):c.62G>T (p.G21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848582" "0" "30" "1" "231471908" "231471908" "subst" "0.00179513" "02326" "EGLN1_000030" "g.231471908A>G" "" "" "" "EXOC8(NM_175876.5):c.1584T>C (p.H528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872415" "3" "90" "1" "231471778" "231471778" "subst" "0" "00006" "EXOC8_000001" "g.231471778C>A" "" "{PMID:Ullah 2022:35460391}" "" "" "" "Germline" "yes" "" "0" "" "" "g.231336032C>A" "" "pathogenic (recessive)" "" "0000872416" "3" "90" "1" "231471676" "231471677" "del" "0" "00006" "EXOC8_000002" "g.231471676_231471677del" "" "{PMID:Coulter 2020:32103185}" "" "" "" "Germline" "yes" "" "0" "" "" "g.231335930_231335931del" "" "pathogenic (recessive)" "" "0000904862" "3" "70" "1" "231472800" "231472800" "subst" "0" "00006" "EXOC8_000003" "g.231472800T>C" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "reported as candidate disease gene" "Germline" "" "rs1558358137" "0" "" "" "g.231337054T>C" "" "VUS" "" "0001063304" "0" "70" "1" "231474285" "231474285" "dup" "0" "01804" "EGLN1_000038" "g.231474285dup" "" "" "" "SPRTN(NM_032018.7):c.156dup (p.(Asn53*))" "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 EXOC8 ## Count = 7 "{{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}}" "0000505904" "00007307" "30" "-690" "0" "-690" "0" "c.-690G>T" "r.(?)" "p.(=)" "" "0000799163" "00007307" "50" "62" "0" "62" "0" "c.62G>T" "r.(?)" "p.(Gly21Val)" "" "0000848582" "00007307" "30" "1584" "0" "1584" "0" "c.1584T>C" "r.(?)" "p.(His528=)" "" "0000872415" "00007307" "90" "1714" "0" "1714" "0" "c.1714G>T" "r.(?)" "p.(Glu572*)" "" "0000872416" "00007307" "90" "1815" "0" "1816" "0" "c.1815_1816del" "r.(?)" "p.(Asp607*)" "" "0000904862" "00007307" "70" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "0001063304" "00007307" "70" "-792" "0" "-792" "0" "c.-792dup" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000414712" "0000872415" "0000414713" "0000872416" "0000427502" "0000904862"