### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = WDR91)
# 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}}"
"WDR91"	"WD repeat domain 91"	"7"	"q33"	"unknown"	"NC_000007.13"	"UD_132612558628"	""	"https://www.LOVD.nl/WDR91"	""	"1"	"24997"	"29062"	"616303"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2023-12-04 08:47:16"	"00006"	"2023-12-04 08:48:26"


## 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}}"
"00022805"	"WDR91"	"WD repeat domain 91"	"001"	"NM_014149.3"	""	"NP_054868.3"	""	""	""	"-62"	"4557"	"2244"	"134896316"	"134868590"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"03385"	"-"	"microcephaly, postnatal progressive, with seizures and brain atrophy"	"AR"	"613668"	""	"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 = 0


## 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}}"
"00050581"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00374139"	""	""	""	"1"	""	"00006"	"{PMID:Lefebvre 2021:32732226}"	"fetus"	"M"	"yes"	"France"	""	"0"	""	""	""	""
"00443771"	""	""	""	"1"	""	"04602"	""	""	"F"	"yes"	"(Turkey)"	""	""	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00050581"	"00198"
"00374139"	"00198"
"00443771"	"03385"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03385
## 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}}"
"0000037193"	"00198"	"00050581"	"00006"	"Isolated (sporadic)"	""	"patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum"	""	""	""	""	""	""	""	""	""	""	""
"0000269350"	"00198"	"00374139"	"00006"	"Unknown"	"<0d"	"15w-fetus, ultrasound Hygroma, hydrocephaly; autopsy Hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, interventricualr communication"	""	""	""	""	""	""	""	""	""	"multiple congenital abnormalities"	""
"0000333045"	"03385"	"00443771"	"04602"	"Familial, autosomal recessive"	""	"Psychomotor retardation, cognitive impairment, seizures, spasticity, dystonia, chorea, ophthalmoparesis, bulbar signs, skeletal muscle atrophy, microcephaly, scoliosis, hypertrichosis"	""	""	""	""	""	""	""	""	""	""	""


## 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}}"
"0000050526"	"00050581"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000375332"	"00374139"	"1"	"00006"	"00006"	"2021-05-23 14:33:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000445267"	"00443771"	"1"	"04602"	"04602"	"2023-12-01 13:47:51"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000375332"	"WDR91"
"0000445267"	"WDR91"


## 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 = 3
"{{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}}"
"0000079506"	"0"	"90"	"7"	"121000064"	"135573959"	"del"	"0"	"00006"	"IMPDH1_000003"	"g.121000064_135573959del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000786673"	"3"	"70"	"7"	"134894391"	"134894391"	"subst"	"0"	"00006"	"WDR91_000001"	"g.134894391G>C"	""	"{PMID:Lefebvre 2021:32732226}"	""	""	"concordant segregation among 4 affected fetus, 2 healthy sibs and both parents; functional data: WD40-repeat protein required for neuronal development"	"Germline"	""	""	"0"	""	""	"g.135209639G>C"	""	"likely pathogenic"	""
"0000952172"	"3"	"90"	"7"	"134879685"	"134879685"	"subst"	"0"	"04602"	"WDR91_000002"	"g.134879685C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.135194933C>T"	""	"likely pathogenic (recessive)"	"ACMG"


## 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 WDR91
## Count = 3
"{{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}}"
"0000079506"	"00022805"	"00"	"-677705"	"0"	"8388607"	"0"	"c.-677705_*13870839del"	"r.0?"	"p.0?"	""
"0000786673"	"00022805"	"70"	"240"	"0"	"240"	"0"	"c.240C>G"	"r.(?)"	"p.(Tyr80Ter)"	""
"0000952172"	"00022805"	"90"	"1395"	"1"	"1395"	"1"	"c.1395+1G>A"	"r.spl"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000050526"	"0000079506"
"0000375332"	"0000786673"
"0000445267"	"0000952172"