### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VPS51) # 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}}" "VPS51" "vacuolar protein sorting 51 homolog (S. cerevisiae)" "11" "q13.1" "unknown" "NC_000011.9" "UD_136021926146" "" "https://www.LOVD.nl/VPS51" "" "1" "1172" "738" "615738" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/VPS51_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-07 10:59:06" "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}}" "00025639" "VPS51" "transcript variant 1" "002" "NM_013265.3" "" "NP_037397.2" "" "" "" "-136" "2622" "2349" "64863587" "64879332" "00006" "2021-10-07 10:21:46" "" "" ## 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}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05972" "PCH13" "hypoplasia, pontocerebellar, type 13 (PCH13)" "AR" "618606" "" "" "" "00006" "2021-10-07 10:24:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "VPS51" "05611" "VPS51" "05972" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00385104" "" "" "" "1" "" "00006" "{PMID:Gershlick 2019:30624672}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" "00385105" "" "" "" "2" "" "00006" "{PMID:Uwineza 2019:31207318}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Rwanda" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00385104" "05611" "00385105" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 05972 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000278887" "05611" "00385104" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., early infancy cholestatic hepatitis, feeding difficulties, failure to thrive; ongoing liver dysfunction requiring treatment with bile acid ursodiol, gastrostomy tube dependence, hypotonia, marked microcephaly, severe global developmental delay, inability to sit, lack of spoken language, electrical status epilepticus in sleep requiring anticonvulsant therapy, cortical vision impairment, strabismus, sleep apnea, gastric volvulus, constipation, asthma, episodic respiratory infections (incl. respiratory syncytial virus), adenoviral pneumonia, pleural effusion; minor dysmorphic features, epicanthal folds, long eyelashes, slightly overfolded ears, upturned nasal tip, thin upper lip, high/narrow anterior palate, full/rounded cheeks, low posterior hairline, single flexion creases fifth fingers, mild clubbing thumbnails/other fingernails, increased hair upper back; 6y-bilateral lower extremity edema; 4m-MRI brain normal, 4y-6y-multiple abnormalities, small cerebellar vermis, small pons/brainstem, enlarged infra-vermian cistern with suspicion Dandy–Walker variant, small hippocampus, thin corpus callosum, abnormal white matter signal cerebral hemispheres" "" "" "" "" "" "" "PCH13" "neurodevelopmental delay" "0000278888" "05611" "00385105" "00006" "Familial, autosomal recessive" "" "see paper; ..., delayed psychomotor development, absent speech, severe intellectual disability, postnatal microcephaly, brain malformations, cerebellar atrophy (1/2), hypoplastic corpus callosum (1/2)" "" "" "" "" "" "" "PCH13" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000386333" "00385104" "1" "00006" "00006" "2021-10-07 10:37:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000386334" "00385105" "1" "00006" "00006" "2021-10-07 11:02:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000386333" "VPS51" "0000386334" "VPS51" ## 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 = 5 "{{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}}" "0000723576" "0" "50" "11" "64884755" "64884755" "subst" "0.000805891" "02325" "FAU_000001" "g.64884755G>A" "" "" "" "ZNHIT2(NM_014205.4):c.371C>T (p.P124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000813807" "21" "90" "11" "64878942" "64878942" "del" "0" "00006" "VPS51_000002" "g.64878942del" "" "{PMID:Gershlick 2019:30624672}" "" "2232delC" "" "Germline" "" "" "0" "" "" "g.65111470del" "" "pathogenic (recessive)" "" "0000813808" "11" "90" "11" "64876776" "64876776" "subst" "0" "00006" "VPS51_000003" "g.64876776C>T" "" "{PMID:Gershlick 2019:30624672}" "" "" "" "Germline" "" "" "0" "" "" "g.65109304C>T" "" "pathogenic (recessive)" "" "0000813812" "3" "90" "11" "64876364" "64876366" "del" "0" "00006" "VPS51_000004" "g.64876364_64876366del" "" "{PMID:Uwineza 2019:31207318}" "" "1419_1421del" "" "Germline" "yes" "" "0" "" "" "g.65108892_65108894del" "" "pathogenic (recessive)" "" "0001053926" "0" "50" "11" "64863900" "64863900" "subst" "0" "01804" "VPS51_000005" "g.64863900C>A" "" "" "" "VPS51(NM_013265.4):c.178C>A (p.(Pro60Thr))" "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 VPS51 ## Count = 5 "{{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}}" "0000723576" "00025639" "50" "8045" "0" "8045" "0" "c.*5696G>A" "r.(=)" "p.(=)" "" "0000813807" "00025639" "90" "2232" "0" "2232" "0" "c.2232del" "r.(?)" "p.(Asp745Thrfs*93)" "" "0000813808" "00025639" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Cys)" "" "0000813812" "00025639" "90" "1421" "0" "1423" "0" "c.1421_1423del" "r.(?)" "p.(Phe474del)" "" "0001053926" "00025639" "50" "178" "0" "178" "0" "c.178C>A" "r.(?)" "p.(Pro60Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000386333" "0000813807" "0000386333" "0000813808" "0000386334" "0000813812"