### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = APOA1BP)
# 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}}"
"APOA1BP" "apolipoprotein A-I binding protein" "1" "q21" "unknown" "NC_000001.10" "UD_132319184298" "" "https://www.LOVD.nl/NAXE" "" "1" "18453" "128240" "608862" "1" "1" "1" "1" "NOTE: gene name changed from APOA1BP to NAXE\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from APOA1BP to NAXE" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-29 11:00:49" "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}}"
"00002681" "APOA1BP" "apolipoprotein A-I binding protein" "001" "NM_144772.2" "" "NP_658985.2" "" "" "" "-39" "1082" "867" "156561558" "156564091" "" "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"
"05886" "PEBEL" "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy (PEBEL)" "" "" "" "" "" "00006" "2020-12-29 10:54:33" "" ""
"05887" "PEBEL1" "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 1 (PEBEL1)" "AR" "617186" "" "" "" "00006" "2020-12-29 11:00:33" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"APOA1BP" "05886"
"APOA1BP" "05887"
## 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}}"
"00274148" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat12"
"00307957" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "12DG2311"
"00334932" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "F" "no" "Italy" "" "0" "" "" "" "PME5"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00274148" "00198"
"00307957" "00139"
"00334932" "05887"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05886, 05887
## 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}}"
"0000209093" "00198" "00274148" "00006" "Familial, autosomal recessive" "" "deceased; mitochondrial disease criteria score 3; muscle biopsy from autopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" ""
"0000233380" "00139" "00307957" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., Seizures, Developmental regression, Dystonia, Ataxia" "" "" "" "" "" "" "" "" "" "intellectual diability" ""
"0000257422" "05887" "00334932" "00006" "Familial, autosomal recessive" "" "Onset age 12 of versive motor seizures on background of developmental delay (at onset EEGs were suggestive of Lafora or mitochondrial disease, as they showed bi-occipital spiking that was suppressed by eye opening, generalized spikes and strong photosensitivity). Absence seizures from 13 years, daily myoclonus from 15 years. Occasional TCS. Slowly progressive severe ataxia, Dementia. Abnormal eye movements, hyper-reflexia, bilateral Hoffman\'s and Babinski reflexes, mild extrapyramidal signs. Brain MRI as well as muscle and skin biopsy were unremarkable. Death at 26 years due to refractory myoclonic status." "" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy , developmental delay" ""
## 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}}"
"0000275303" "00274148" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000309101" "00307957" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000336162" "00334932" "1" "03286" "03286" "2021-03-02 13:44:32" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000275303" "APOA1BP"
"0000309101" "APOA1BP"
## 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 = 12
"{{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}}"
"0000503805" "0" "30" "1" "156561929" "156561929" "subst" "0" "01943" "APOA1BP_000001" "g.156561929T>A" "" "" "" "NAXE(NM_144772.2):c.219T>A (p.F73L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156592137T>A" "" "likely benign" ""
"0000503806" "0" "10" "1" "156562143" "156562143" "subst" "0.95798" "02327" "APOA1BP_000002" "g.156562143G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156592351G>A" "" "benign" ""
"0000503807" "0" "50" "1" "156562181" "156562181" "subst" "0" "02327" "APOA1BP_000003" "g.156562181A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156592389A>G" "" "VUS" ""
"0000503808" "0" "10" "1" "156563813" "156563813" "subst" "0.958016" "02326" "APOA1BP_000004" "g.156563813G>A" "" "" "" "NAXE(NM_144772.3):c.804G>A (p.E268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156594021G>A" "" "benign" ""
"0000503809" "0" "50" "1" "156563851" "156563851" "subst" "0.000511692" "01943" "APOA1BP_000005" "g.156563851C>T" "" "" "" "NAXE(NM_144772.2):c.842C>T (p.T281I), NAXE(NM_144772.3):c.842C>T (p.(Thr281Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.156594059C>T" "" "VUS" ""
"0000629267" "21" "90" "1" "156563336" "156563336" "subst" "0" "00006" "APOA1BP_000010" "g.156563336A>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.156593544A>T" "" "pathogenic" ""
"0000629335" "11" "90" "1" "156563752" "156563752" "del" "0" "00006" "APOA1BP_000009" "g.156563752del" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "743_744delC" "" "Germline" "" "" "0" "" "" "g.156593960del" "" "pathogenic (recessive)" ""
"0000683564" "3" "70" "1" "156561972" "156561972" "subst" "0" "00006" "APOA1BP_000011" "g.156561972G>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PP1,PM2,PP3,PM1" "Germline" "" "" "0" "" "" "g.156592180G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000716910" "0" "50" "1" "156565886" "156565898" "del" "0" "01943" "APOA1BP_000012" "g.156565886_156565898del" "" "" "" "GPATCH4(NM_182679.2):c.452_464delCCTGTGAGGGGCG (p.A151Efs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000735275" "3" "90" "1" "156561724" "156561724" "subst" "2.50788E-5" "03286" "APOA1BP_000013" "g.156561724C>A" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PVS1, PM3, PP3, PP4; The patient\'s electroclinical phenotype shares some features with previous reports for this gene, notably developmental delay and subacute ataxia. Features which are not consistent include later onset, a less rapidly progressive clinical course and no evidence of cerebral oedema. The confirmed autosomal recessive inheritance of this rare stopgain variant is consistent with this presumed homozygous variant being causative. It is therefore with high confidence we expand the NAXEclinical spectrum to PME." "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0001050316" "0" "30" "1" "156561887" "156561887" "subst" "6.50354E-5" "01804" "APOA1BP_000014" "g.156561887C>G" "" "" "" "NAXE(NM_144772.3):c.183-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001050317" "0" "50" "1" "156563851" "156563851" "subst" "0.000511692" "01804" "APOA1BP_000005" "g.156563851C>T" "" "" "" "NAXE(NM_144772.2):c.842C>T (p.T281I), NAXE(NM_144772.3):c.842C>T (p.(Thr281Ile))" "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 APOA1BP
## Count = 12
"{{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}}"
"0000503805" "00002681" "30" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" ""
"0000503806" "00002681" "10" "292" "-14" "292" "-14" "c.292-14G>A" "r.(=)" "p.(=)" ""
"0000503807" "00002681" "50" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Arg106Gly)" ""
"0000503808" "00002681" "10" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Glu268=)" ""
"0000503809" "00002681" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Thr281Ile)" ""
"0000629267" "00002681" "90" "653" "0" "653" "0" "c.653A>T" "r.(?)" "p.(Asp218Val)" ""
"0000629335" "00002681" "90" "743" "0" "743" "0" "c.743del" "r.(?)" "p.(Ala248Glufs*26)" ""
"0000683564" "00002681" "70" "262" "0" "262" "0" "c.262G>T" "r.(?)" "p.(Gly88Trp)" ""
"0000716910" "00002681" "50" "2877" "0" "2889" "0" "c.*2010_*2022del" "r.(=)" "p.(=)" ""
"0000735275" "00002681" "90" "128" "0" "128" "0" "c.128C>A" "r.(?)" "p.(Ser43*)" ""
"0001050316" "00002681" "30" "183" "-6" "183" "-6" "c.183-6C>G" "r.(=)" "p.(=)" ""
"0001050317" "00002681" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Thr281Ile)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{variantid}}"
"0000275303" "0000629267"
"0000275303" "0000629335"
"0000309101" "0000683564"
"0000336162" "0000735275"