### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = WDR52)
# 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}}"
"WDR52" "WD repeat domain 52" "3" "q13.2" "unknown" "NC_000003.11" "UD_132610644055" "" "https://www.LOVD.nl/CFAP44" "" "1" "25631" "55779" "0" "1" "1" "1" "1" "NOTE: gene name changed from WDR52 to CFAP44\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "NOTE: gene name changed from WDR52 to CFAP44" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-13 22:36:38" "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}}"
"00025373" "WDR52" "transcript variant 1" "002" "NM_001164496.1" "" "NP_001157968.1" "" "" "" "-67" "10192" "5565" "113160361" "113005777" "00006" "2019-02-15 17:00:59" "" ""
## 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}}"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" ""
"05566" "SPGF20" "spermatogenic failure, type 18 (SPGF-20)" "AR" "617593" "" "autosomal recessive" "" "00006" "2019-02-13 22:56:00" "00006" "2021-12-10 21:51:32"
"06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"WDR52" "05566"
## Individuals ## Do not remove or alter this header ##
## Count = 11
"{{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}}"
"00225390" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Tunisia" "29449551-PatCFAP44-1"
"00225391" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Tunisia" "29449551-PatCFAP44-2"
"00225392" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Morocco" "29449551-PatCFAP44-3"
"00225393" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Algeria" "29449551-PatCFAP44-4"
"00225394" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Algeria" "29449551-PatCFAP44-5"
"00225395" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Algeria" "30686508-PatCFAP44-7"
"00225396" "" "" "" "1" "" "00006" "{PMID:Coutton 2018:29449551}" "" "M" "" "" "" "0" "" "" "Algeria" "29449551-PatCFAP44-6"
"00225397" "" "" "" "1" "" "00006" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "M" "" "" "" "0" "" "" "Iran" "30686508-PatCFAP44-8"
"00395614" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3055"
"00443877" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "4-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "FamDPatV2"
"00443878" "" "" "00443877" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "FamDPatV3"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}" "{{diseaseid}}"
"00225390" "05562"
"00225391" "05562"
"00225392" "05562"
"00225393" "05562"
"00225394" "05562"
"00225395" "05562"
"00225396" "05562"
"00225397" "05562"
"00395614" "04214"
"00443877" "06906"
"00443878" "06906"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04214, 05562, 05566, 06906
## 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}}"
"0000170507" "05562" "00225390" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "male fertility"
"0000170508" "05562" "00225391" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "male fertility"
"0000170509" "05562" "00225392" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "male fertility"
"0000170510" "05562" "00225393" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "male fertility"
"0000170511" "05562" "00225394" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "male fertility"
"0000170512" "05562" "00225395" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "male fertility"
"0000170513" "05562" "00225396" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "male fertility"
"0000170514" "05562" "00225397" "00006" "Familial, autosomal recessive" "" "male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF)" "" "" "" "" "" "" "" "" "male fertility"
"0000288812" "04214" "00395614" "00000" "Familial, autosomal dominant" "" "cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency" "" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability, renal abnormalities" ""
"0000333154" "06906" "00443877" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., 1d-myoclonic seizure; 10y-last seizure; EEG at onset dysrhythmia; 10y-last seizure; axial hypotonia, spasticity, dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain normal" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy"
"0000333155" "06906" "00443878" "00006" "Familial, autosomal recessive" "15m" "see paper; ..., 7d-epileptic spasms, myoclonic seizure; no seizures reported for 2 m; EEG at onset suppression-burst pattern/burst attenuation; axial hypotonia, mild dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain posterior cervical junction notch" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy"
## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000226469" "00225390" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000226470" "00225391" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000226471" "00225392" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000226472" "00225393" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000226473" "00225394" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000226474" "00225395" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000226475" "00225396" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000226476" "00225397" "1" "00006" "00006" "2019-02-15 16:01:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000396852" "00395614" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing"
"0000445374" "00443877" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000445375" "00443878" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 9
"{{screeningid}}" "{{geneid}}"
"0000226469" "WDR52"
"0000226470" "WDR52"
"0000226471" "WDR52"
"0000226472" "WDR52"
"0000226473" "WDR52"
"0000226474" "WDR52"
"0000226475" "WDR52"
"0000226476" "WDR52"
"0000396852" "IMPG2"
## 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 = 17
"{{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}}"
"0000273267" "0" "50" "3" "113114700" "113114700" "subst" "0" "01943" "WDR52_000001" "g.113114700T>C" "" "" "" "CFAP44(NM_001164496.2):c.1787A>G (p.D596G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113395853T>C" "" "VUS" ""
"0000329544" "0" "50" "3" "113003372" "113003385" "del" "0" "01804" "BOC_000001" "g.113003372_113003385del" "" "" "" "BOC(NM_001378074.1):c.2847_2860del (p.(Gly950Alafs*12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113284525_113284538del" "" "VUS" ""
"0000329546" "0" "50" "3" "113115502" "113115502" "subst" "0.000130125" "01804" "WDR52_000002" "g.113115502G>T" "" "" "" "WDR52(NM_001164496.1):c.1642C>A (p.(Pro548Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113396655G>T" "" "VUS" ""
"0000458716" "3" "90" "3" "113114596" "113114596" "subst" "0" "00006" "WDR52_000004" "g.113114596C>T" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.113395749C>T" "" "pathogenic (recessive)" ""
"0000458717" "3" "90" "3" "113063450" "113063450" "subst" "0" "00006" "WDR52_000005" "g.113063450G>A" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.113344603G>A" "" "pathogenic (recessive)" ""
"0000458718" "3" "90" "3" "113082108" "113082108" "dup" "0" "00006" "WDR52_000006" "g.113082108dup" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "2818dupG" "" "De novo" "" "" "0" "" "" "g.113363261dup" "" "pathogenic (recessive)" ""
"0000458719" "3" "90" "3" "113119479" "113119479" "subst" "0" "00006" "WDR52_000009" "g.113119479C>A" "2/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.113400632C>A" "" "pathogenic (recessive)" ""
"0000458720" "3" "90" "3" "113119479" "113119479" "subst" "0" "00006" "WDR52_000009" "g.113119479C>A" "2/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "" "" "Germline" "" "" "0" "" "" "g.113400632C>A" "" "pathogenic (recessive)" ""
"0000458721" "3" "90" "3" "113119479" "113119479" "subst" "0" "00006" "WDR52_000009" "g.113119479C>A" "1/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "" "" "Germline" "" "" "0" "" "" "g.113400632C>A" "" "pathogenic (recessive)" ""
"0000458722" "3" "90" "3" "113023992" "113023992" "del" "0" "00006" "WDR52_000007" "g.113023992del" "1/78 cases MMAF" "{PMID:Coutton 2018:29449551}" "" "4767delT" "" "Germline" "" "" "0" "" "" "g.113305145del" "" "pathogenic (recessive)" ""
"0000458723" "3" "90" "3" "113010429" "113010430" "dup" "0" "00006" "WDR52_000008" "g.113010429_113010430dup" "1/167 cases MMAF" "{PMID:Coutton 2019:30686508}, {DOI:Coutton 2019:10.1016/j.ajhg.2018.12.013}" "" "5540_5541dupAA" "" "Germline" "" "" "0" "" "" "g.113291582_113291583dup" "" "pathogenic (recessive)" ""
"0000608211" "0" "50" "3" "113005589" "113005589" "subst" "0.0001954" "01943" "BOC_000003" "g.113005589T>A" "" "" "" "BOC(NM_033254.3):c.3225T>A (p.S1075R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113286742T>A" "" "VUS" ""
"0000608212" "0" "30" "3" "113025123" "113025123" "subst" "0" "01943" "BOC_000004" "g.113025123G>A" "" "" "" "CFAP44(NM_001164496.2):c.4683C>T (p.D1561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113306276G>A" "" "likely benign" ""
"0000608213" "0" "30" "3" "113120127" "113120127" "subst" "5.478E-5" "01943" "BOC_000005" "g.113120127T>C" "" "" "" "CFAP44(NM_001164496.2):c.1334A>G (p.N445S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113401280T>C" "" "likely benign" ""
"0000828551" "0" "50" "3" "97483365" "113953480" "del" "0" "00000" "IMPG2_000140" "g.97483365_113953480del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous" "no gene indicated in publication!" "Unknown" "?" "" "0" "" "" "g.97764521_114234636del" "" "VUS" "ACMG"
"0000952323" "3" "50" "3" "113119440" "113119440" "subst" "0.00300016" "00006" "WDR52_000011" "g.113119440C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_001164496:c.1426G>A" "" "Germline" "" "" "0" "" "" "g.113400593C>T" "" "VUS" ""
"0000952334" "3" "50" "3" "113119440" "113119440" "subst" "0.00300016" "00006" "WDR52_000011" "g.113119440C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_001164496:c.1426G>A" "" "Germline" "" "" "0" "" "" "g.113400593C>T" "" "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 WDR52
## Count = 17
"{{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}}"
"0000273267" "00025373" "50" "1787" "0" "1787" "0" "c.1787A>G" "r.(?)" "p.(Asp596Gly)" ""
"0000329544" "00025373" "50" "12587" "0" "12600" "0" "c.*7022_*7035del" "r.(=)" "p.(=)" ""
"0000329546" "00025373" "50" "1642" "0" "1642" "0" "c.1642C>A" "r.(?)" "p.(Pro548Thr)" ""
"0000458716" "00025373" "90" "1890" "1" "1890" "1" "c.1890+1G>A" "r.spl" "p.(Pro631Ile*22)" ""
"0000458717" "00025373" "90" "3175" "0" "3175" "0" "c.3175C>T" "r.(?)" "p.(Arg1059*)" ""
"0000458718" "00025373" "90" "2818" "0" "2818" "0" "c.2818dup" "r.(?)" "p.(Glu940Glyfs*19)" ""
"0000458719" "00025373" "90" "1387" "0" "1387" "0" "c.1387G>T" "r.(?)" "p.(Glu463*)" ""
"0000458720" "00025373" "90" "1387" "0" "1387" "0" "c.1387G>T" "r.(?)" "p.(Glu463*)" ""
"0000458721" "00025373" "90" "1387" "0" "1387" "0" "c.1387G>T" "r.(?)" "p.(Glu463*)" ""
"0000458722" "00025373" "90" "4767" "0" "4767" "0" "c.4767del" "r.(?)" "p.(Ile1589Metfs*6)" ""
"0000458723" "00025373" "90" "5540" "0" "5541" "0" "c.5540_5541dup" "r.(?)" "p.(Glu1848Lysfs*41)" ""
"0000608211" "00025373" "50" "10380" "0" "10380" "0" "c.*4815A>T" "r.(=)" "p.(=)" ""
"0000608212" "00025373" "30" "4683" "0" "4683" "0" "c.4683C>T" "r.(?)" "p.(Asp1561=)" ""
"0000608213" "00025373" "30" "1334" "0" "1334" "0" "c.1334A>G" "r.(?)" "p.(Asn445Ser)" ""
"0000828551" "00025373" "50" "-793186" "0" "8388607" "0" "c.-793186_*15527039del" "r.0?" "p.0?" ""
"0000952323" "00025373" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Val476Met)" ""
"0000952334" "00025373" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Val476Met)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}" "{{variantid}}"
"0000226469" "0000458716"
"0000226470" "0000458717"
"0000226471" "0000458718"
"0000226472" "0000458719"
"0000226473" "0000458720"
"0000226474" "0000458721"
"0000226475" "0000458722"
"0000226476" "0000458723"
"0000396852" "0000828551"
"0000445374" "0000952323"
"0000445375" "0000952334"