### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CERS3)
# 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}}"
"CERS3"	"ceramide synthase 3"	"15"	"q26.3"	"unknown"	"NG_042826.1"	"UD_132378474712"	""	"https://www.LOVD.nl/CERS3"	""	"1"	"23752"	"204219"	"615276"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/CERS3_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2017-06-14 09:20:49"	"00006"	"2023-08-30 21:33:28"


## 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}}"
"00005013"	"CERS3"	"ceramide synthase 3"	"001"	"NM_178842.3"	""	"NP_849164.2"	""	""	""	"-424"	"3470"	"1152"	"101084925"	"100940600"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"00747"	"XPD"	"xeroderma pigmentosum, complementation group D (XPD)"	"AR"	"278730"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03808"	"ARCI9"	"ichthyosis, congenital, autosomal recessive, type 9 (ARCI-9)"	"AR"	"615023"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05283"	"ARCI"	"ichthyosis, congenital, autosomal recessive (ARCI)"	""	""	""	""	""	"00006"	"2017-06-14 13:12:42"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CERS3"	"03808"


## Individuals ## Do not remove or alter this header ##
## Count = 12
"{{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}}"
"00104974"	""	""	""	"2"	""	"02038"	""	""	"M"	"yes"	"(Iran)"	""	"0"	""	""	"Persian"	""
"00104975"	""	""	""	"1"	""	"02038"	""	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	""
"00104976"	""	""	""	"1"	""	"02038"	""	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00104977"	""	""	""	"1"	""	"02038"	""	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00104985"	""	""	""	"1"	""	"00006"	"{PMID:Radner 2013:23754960}, {DOI:Radner 2013:10.1371/journal.pgen.1003536}"	""	"F"	""	"Tunisia"	""	"0"	""	""	""	"23754960-FamH"
"00104986"	""	""	""	"2"	""	"00006"	"{PMID:Radner 2013:23754960}, {DOI:Radner 2013:10.1371/journal.pgen.1003536}"	"2-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents"	"M"	""	"Tunisia"	""	"0"	""	""	""	"23754960-FamDPat1/2"
"00104987"	""	""	""	"1"	""	"00006"	"{PMID:Radner 2013:23754960}, {DOI:Radner 2013:10.1371/journal.pgen.1003536}"	""	"M"	"yes"	"Tunisia"	""	"0"	""	""	""	"23754960-FamS"
"00104988"	""	""	""	"1"	""	"00006"	"{PMID:Radner 2013:23754960}, {DOI:Radner 2013:10.1371/journal.pgen.1003536}"	""	"M"	""	"Tunisia"	""	"0"	""	""	""	"23754960-FamC"
"00105000"	""	""	""	"1"	""	"02038"	""	""	"M"	"yes"	"Iran"	""	"0"	""	""	""	""
"00105001"	""	""	""	"1"	""	"02038"	""	""	"F"	"yes"	"Iran"	""	"0"	""	""	"Persian"	""
"00105002"	""	""	""	"9"	""	"00006"	"{PMID:Eckl 2013:23549421}, {DOI:Eckl 2013:10.1038/jid.2013.153}"	"7-generation family, 9 affecteds (7F, 2M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Germany"	""	"0"	""	""	""	"235494210Fam"
"00436177"	""	""	""	"3"	""	"00006"	"{PMID:Ben Rekaya 2018:29169765}"	"4-generation family, 3 affected, sister unaffected heterozygous parents/relatives"	"F"	""	"Tunisia"	""	"0"	""	""	""	"XP14KA.1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}"	"{{diseaseid}}"
"00104974"	"03808"
"00104975"	"03808"
"00104976"	"03808"
"00104977"	"03808"
"00104985"	"05283"
"00104986"	"05283"
"00104987"	"05283"
"00104988"	"05283"
"00105001"	"03808"
"00105002"	"05283"
"00436177"	"00747"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00747, 03808, 05283
## Count = 11
"{{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}}"
"0000082865"	"03808"	"00104977"	"02038"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""
"0000082867"	"03808"	"00104974"	"02038"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""
"0000082868"	"03808"	"00104975"	"02038"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""
"0000082869"	"03808"	"00104976"	"02038"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""
"0000082875"	"05283"	"00104985"	"00006"	"Familial, autosomal recessive"	"30y"	"see paper; ..."	""	""	""	""	""	""	""	""	""
"0000082876"	"05283"	"00104986"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., abnormal desquamation whole body, skin/eye/heart/skeletal anomalies; ages 37y, 22y"	""	""	""	""	""	""	""	""	""
"0000082877"	"05283"	"00104987"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..., abnormal desquamation whole body, skin/eye/heart/skeletal anomalies"	""	""	""	""	""	""	""	""	""
"0000082878"	"05283"	"00104988"	"00006"	"Familial, autosomal recessive"	"11y"	"see paper; ..., abnormal desquamation whole body, skin/eye/heart/skeletal anomalies"	""	""	""	""	""	""	""	""	""
"0000082891"	"03808"	"00105001"	"02038"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""
"0000082893"	"05283"	"00105002"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., congenital ichthyosis, collodion membranes at birth, generalized scaling skin, mild erythroderma"	""	""	""	""	""	""	""	""	""
"0000326357"	"00747"	"00436177"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	"XPD"	""


## Screenings ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000105447"	"00104974"	"1"	"02038"	"02038"	"2017-06-13 23:41:18"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000105448"	"00104975"	"1"	"02038"	"02038"	"2017-06-13 23:52:45"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000105449"	"00104976"	"1"	"02038"	"02038"	"2017-06-14 00:22:26"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000105450"	"00104977"	"1"	"02038"	"02038"	"2017-06-14 00:29:21"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000105458"	"00104985"	"1"	"00006"	"00006"	"2017-06-14 13:16:27"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000105459"	"00104986"	"1"	"00006"	"00006"	"2017-06-14 13:25:09"	""	""	"arraySNP;PCR;SEQ"	"DNA"	""	""
"0000105460"	"00104987"	"1"	"00006"	"00006"	"2017-06-14 13:41:38"	""	""	"arraySNP;PCR;SEQ"	"DNA"	""	""
"0000105461"	"00104988"	"1"	"00006"	"00006"	"2017-06-14 13:44:35"	""	""	"arraySNP;PCR;SEQ"	"DNA"	""	""
"0000105473"	"00105000"	"1"	"02038"	"02038"	"2017-06-14 18:05:14"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000105474"	"00105001"	"1"	"02038"	"02038"	"2017-06-14 18:17:20"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000105475"	"00105002"	"1"	"00006"	"00006"	"2017-06-14 20:04:01"	""	""	"arraySNP;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000437660"	"00436177"	"1"	"00006"	"00006"	"2023-08-30 21:25:54"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}"	"{{geneid}}"
"0000105447"	"CERS3"
"0000105448"	"CERS3"
"0000105449"	"CERS3"
"0000105450"	"CERS3"
"0000105458"	"CERS3"
"0000105459"	"CERS3"
"0000105460"	"CERS3"
"0000105461"	"CERS3"
"0000105473"	"CERS3"
"0000105474"	"CERS3"
"0000105475"	"CERS3"


## 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}}"
"0000170861"	"3"	"50"	"15"	"101024760"	"101024762"	"del"	"0"	"02038"	"CERS3_000001"	"g.101024760_101024762del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100484555_100484557del"	""	"VUS"	""
"0000170862"	"3"	"50"	"15"	"101013182"	"101013182"	"subst"	"0"	"02038"	"CERS3_000002"	"g.101013182G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100472977G>A"	""	"VUS"	""
"0000170863"	"3"	"70"	"15"	"101042025"	"101042025"	"subst"	"0"	"02038"	"CERS3_000003"	"g.101042025C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100501820C>T"	""	"likely pathogenic"	""
"0000170864"	"3"	"50"	"15"	"100996182"	"100996182"	"subst"	"0"	"02038"	"CERS3_000004"	"g.100996182G>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100455977G>T"	""	"VUS"	""
"0000170872"	"3"	"90"	"15"	"101016290"	"101016290"	"subst"	"0"	"00006"	"CERS3_000005"	"g.101016290C>A"	""	"{PMID:Radner 2013:23754960}, {DOI:Radner 2013:10.1371/journal.pgen.1003536}, {OMIM615276:0001}"	""	""	"IHC skin biopsy did not show CERS3 staining; variant not in 192 control chromosomes"	"Germline"	""	"rs587776996"	"0"	""	""	"g.100476085C>A"	""	"pathogenic"	""
"0000170873"	"3"	"90"	"15"	"100856032"	"100962984"	"del"	"0"	"00006"	"CERS3_000006"	"g.100856032_100962984del"	""	"{PMID:Radner 2013:23754960}, {DOI:Radner 2013:10.1371/journal.pgen.1003536}"	""	""	"100 kb deletion in 1.67 Mb shared homozygous region"	"Germline"	""	""	"0"	""	""	"g.100315827_100422779del"	""	"pathogenic"	""
"0000170874"	"3"	"90"	"15"	"100856032"	"100962984"	"del"	"0"	"00006"	"CERS3_000006"	"g.100856032_100962984del"	""	"{PMID:Radner 2013:23754960}, {DOI:Radner 2013:10.1371/journal.pgen.1003536}"	""	""	"100 kb deletion in 1.67 Mb shared homozygous region"	"Germline"	""	""	"0"	""	""	"g.100315827_100422779del"	""	"pathogenic"	""
"0000170875"	"3"	"90"	"15"	"100856032"	"100962984"	"del"	"0"	"00006"	"CERS3_000006"	"g.100856032_100962984del"	""	"{PMID:Radner 2013:23754960}, {DOI:Radner 2013:10.1371/journal.pgen.1003536}"	""	""	"100 kb deletion in 1.67 Mb shared homozygous region"	"Germline"	""	""	"0"	""	""	"g.100315827_100422779del"	""	"pathogenic"	""
"0000170891"	"3"	"50"	"15"	"101013181"	"101013181"	"subst"	"8.1283E-6"	"02038"	"CERS3_000009"	"g.101013181C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100472976C>T"	""	"VUS"	""
"0000170892"	"3"	"50"	"15"	"101024772"	"101024772"	"subst"	"4.062E-6"	"02038"	"CERS3_000008"	"g.101024772C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.100484567C>T"	""	"VUS"	""
"0000170894"	"3"	"90"	"15"	"101042012"	"101042012"	"subst"	"0"	"00006"	"CERS3_000007"	"g.101042012A>G"	""	"{PMID:Eckl 2013:23549421}, {DOI:Eckl 2013:10.1038/jid.2013.153}, {OMIM615276:0002}"	""	""	"variant not in 400 control chromosomes; mRNA expression reduced to 0.7"	"Germline"	"yes"	"rs762679102"	"0"	""	""	"g.100501807A>G"	""	"pathogenic"	""
"0000553552"	"0"	"30"	"15"	"100996083"	"100996083"	"subst"	"2.25185E-5"	"02326"	"CERS3_000010"	"g.100996083T>C"	""	""	""	"CERS3(NM_001290341.2):c.1032+15A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100455878T>C"	""	"likely benign"	""
"0000933007"	"3"	"50"	"15"	"100943029"	"100943034"	"del"	"0"	"00006"	"CERS3_000011"	"g.100943029_100943034del"	""	"{PMID:Ben Rekaya 2018:29169765}"	""	"1053_1058delGGAAGA"	""	"Germline"	"no"	"rs541833197"	"0"	""	""	"g.100402824_100402829del"	""	"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 CERS3
## 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}}"
"0000170861"	"00005013"	"50"	"401"	"0"	"403"	"0"	"c.401_403del"	"r.(?)"	"p.(Glu134del)"	"6"
"0000170862"	"00005013"	"50"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Cys)"	"10"
"0000170863"	"00005013"	"70"	"30"	"0"	"30"	"0"	"c.30G>A"	"r.(?)"	"p.(Trp10*)"	"4"
"0000170864"	"00005013"	"50"	"915"	"0"	"915"	"0"	"c.915C>A"	"r.(?)"	"p.(Asn305Lys)"	"12"
"0000170872"	"00005013"	"90"	"609"	"1"	"609"	"1"	"c.609+1G>T"	"r.517_609del"	"p.Pro173_Lys203del"	"9i"
"0000170873"	"00005013"	"90"	"1000"	"-19914"	"88038"	"0"	"c.1000-19914_*86886del"	"r.?"	"p.?"	"12i_13_"
"0000170874"	"00005013"	"90"	"1000"	"-19914"	"88038"	"0"	"c.1000-19914_*86886del"	"r.?"	"p.?"	"12i_13_"
"0000170875"	"00005013"	"90"	"1000"	"-19914"	"88038"	"0"	"c.1000-19914_*86886del"	"r.?"	"p.?"	"12i_13_"
"0000170891"	"00005013"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"10"
"0000170892"	"00005013"	"50"	"390"	"0"	"390"	"0"	"c.390G>A"	"r.(?)"	"p.(=)"	"6"
"0000170894"	"00005013"	"90"	"43"	"0"	"43"	"0"	"c.43T>C"	"r.(?)"	"p.(Trp15Arg)"	"4"
"0000553552"	"00005013"	"30"	"999"	"15"	"999"	"15"	"c.999+15A>G"	"r.(=)"	"p.(=)"	""
"0000933007"	"00005013"	"50"	"1058"	"0"	"11053"	"0"	"c.11053_1058del"	"r.(?)"	"p.(Glu354_Glu355del)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}"	"{{variantid}}"
"0000105447"	"0000170861"
"0000105448"	"0000170862"
"0000105449"	"0000170863"
"0000105450"	"0000170864"
"0000105458"	"0000170872"
"0000105459"	"0000170873"
"0000105460"	"0000170874"
"0000105461"	"0000170875"
"0000105473"	"0000170891"
"0000105474"	"0000170892"
"0000105475"	"0000170894"
"0000437660"	"0000933007"