### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PIGM)
# 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}}"
"PIGM"	"phosphatidylinositol glycan anchor biosynthesis, class M"	"1"	"q23.2"	"unknown"	"NG_012238.1"	"UD_132118817782"	""	"http://www.LOVD.nl/PIGM"	""	"1"	"18858"	"93183"	"610273"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/PIGM_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-12-19 17:19:50"	"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}}"
"00016152"	"PIGM"	"phosphatidylinositol glycan anchor biosynthesis, class M"	"001"	"NM_145167.2"	""	"NP_660150.1"	""	""	""	"-254"	"4068"	"1272"	"160001783"	"159997462"	""	"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}}"
"02928"	"GPIBD1"	"glycosylphosphatidylinositol deficiency, type 1"	"AR"	"610293"	""	"autosomal recessive"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PIGM"	"02928"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00025010"	""	""	""	"1"	""	"00081"	"{PMID:Almeida 2006:16767100}"	"2 unrelated kindreds, Middle Eastern and Turkish origin"	""	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Middle Eastern; Turkish"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00025010"	"02928"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 02928
## Count = 1
"{{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}}"
"0000021129"	"02928"	"00025010"	"00081"	"Isolated (sporadic)"	""	"propensity to portal venous thrombosis and seizures"	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000025011"	"00025010"	"1"	"00081"	"00006"	"2014-12-02 11:34:18"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000025011"	"PIGM"


## 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 = 9
"{{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}}"
"0000047865"	"3"	"99"	"1"	"160001799"	"160001799"	"subst"	"0"	"00081"	"PIGM_000001"	"g.160001799G>C"	""	"{PMID:Almeida 2006:16767100}"	""	""	"variant in promoter region, not in 100 ethnically matched chromosomes; variant associated with  reduced amount of PIGM mRNA (0.01 of normal); CD24 expression on granulocytes severely reduced (all patients); radiolabeled glycolipids from lymphoblastoid B cell lines were extracted to study GPI biosynthesis: impaired incorporation of 3H-D-mannose in GPI-enriched glycolipids; transfection of human PIGM cDNA into affected cell lines promptly restored biosynthesis and surface expression of GPI"	"Germline"	"yes"	"rs587776528"	"0"	""	""	"g.160032009G>C"	""	"pathogenic"	""
"0000305604"	"0"	"50"	"1"	"160000580"	"160000580"	"subst"	"0.000296483"	"01943"	"PIGM_000002"	"g.160000580C>T"	""	""	""	"PIGM(NM_145167.2):c.950G>A (p.C317Y), PIGM(NM_145167.3):c.950G>A (p.(Cys317Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.160030790C>T"	""	"VUS"	""
"0000653788"	"0"	"50"	"1"	"160000640"	"160000640"	"subst"	"2.43679E-5"	"01943"	"PIGM_000004"	"g.160000640G>A"	""	""	""	"PIGM(NM_145167.2):c.890C>T (p.P297L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.160030850G>A"	""	"VUS"	""
"0000675515"	"0"	"30"	"1"	"160001524"	"160001524"	"subst"	"0.00249947"	"01943"	"PIGM_000005"	"g.160001524G>A"	""	""	""	"PIGM(NM_145167.2):c.6C>T (p.G2=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848350"	"0"	"30"	"1"	"160000702"	"160000702"	"subst"	"0"	"01943"	"PIGM_000006"	"g.160000702G>A"	""	""	""	"PIGM(NM_145167.2):c.828C>T (p.Y276=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001031388"	"0"	"50"	"1"	"160000331"	"160000331"	"subst"	"1.62448E-5"	"01804"	"PIGM_000007"	"g.160000331T>C"	""	""	""	"PIGM(NM_145167.3):c.1199A>G (p.(Asn400Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031389"	"0"	"50"	"1"	"160000569"	"160000569"	"subst"	"1.62454E-5"	"02325"	"PIGM_000008"	"g.160000569T>C"	""	""	""	"PIGM(NM_145167.3):c.961A>G (p.T321A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031390"	"0"	"50"	"1"	"160000580"	"160000580"	"subst"	"0.000296483"	"01804"	"PIGM_000002"	"g.160000580C>T"	""	""	""	"PIGM(NM_145167.2):c.950G>A (p.C317Y), PIGM(NM_145167.3):c.950G>A (p.(Cys317Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031391"	"0"	"50"	"1"	"160000743"	"160000743"	"subst"	"0"	"01804"	"PIGM_000009"	"g.160000743T>G"	""	""	""	"PIGM(NM_145167.3):c.787A>C (p.(Thr263Pro))"	"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 PIGM
## Count = 9
"{{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}}"
"0000047865"	"00016152"	"99"	"-270"	"0"	"-270"	"0"	"c.-270C>G"	"r.(0)"	"p.(0)"	"_1"
"0000305604"	"00016152"	"50"	"950"	"0"	"950"	"0"	"c.950G>A"	"r.(?)"	"p.(Cys317Tyr)"	""
"0000653788"	"00016152"	"50"	"890"	"0"	"890"	"0"	"c.890C>T"	"r.(?)"	"p.(Pro297Leu)"	""
"0000675515"	"00016152"	"30"	"6"	"0"	"6"	"0"	"c.6C>T"	"r.(?)"	"p.(Gly2=)"	""
"0000848350"	"00016152"	"30"	"828"	"0"	"828"	"0"	"c.828C>T"	"r.(?)"	"p.(Tyr276=)"	""
"0001031388"	"00016152"	"50"	"1199"	"0"	"1199"	"0"	"c.1199A>G"	"r.(?)"	"p.(Asn400Ser)"	""
"0001031389"	"00016152"	"50"	"961"	"0"	"961"	"0"	"c.961A>G"	"r.(?)"	"p.(Thr321Ala)"	""
"0001031390"	"00016152"	"50"	"950"	"0"	"950"	"0"	"c.950G>A"	"r.(?)"	"p.(Cys317Tyr)"	""
"0001031391"	"00016152"	"50"	"787"	"0"	"787"	"0"	"c.787A>C"	"r.(?)"	"p.(Thr263Pro)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000025011"	"0000047865"