### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DHRSX) # 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}}" "DHRSX" "dehydrogenase/reductase (SDR family) X-linked" "X" "p22.33 and Yp11" "unknown" "NC_000023.10" "UD_136019773865" "" "https://www.LOVD.nl/DHRSX" "" "1" "18399" "207063" "301034" "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/DHRSX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-11-23 09:42:46" "00006" "2024-11-23 10:44:48" ## 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}}" "00006399" "DHRSX" "dehydrogenase/reductase (SDR family) X-linked" "001" "NM_145177.2" "" "NP_660160.2" "" "" "" "-49" "2528" "993" "2369015" "2087547" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" "07130" "CDG1DD" "glycosylation, congenital disorder of, type 1DD" "" "301133" "" "" "" "00006" "2024-11-23 09:41:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DHRSX" "05461" "DHRSX" "07130" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00334776" "" "" "" "12" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334777" "" "" "" "11" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334778" "" "" "" "8" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00434876" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "M" "" "Canada" "" "0" "" "" "" "CMC32" "00457966" "" "" "" "1" "" "00006" "{PMID:Wilson 2024:38821050}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "(Belgium)" "" "0" "" "" "" "Fam1Pat1" "00457967" "" "" "" "1" "" "00006" "{PMID:Wilson 2024:38821050}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "11m" "0" "" "" "" "Fam2Pat2" "00457968" "" "" "" "2" "" "00006" "{PMID:Wilson 2024:38821050}" "2-generation family, 2 affected brothers, unaffected non carrier parents" "M" "" "Canada" "" "0" "" "" "" "Fam3Pat3" "00457969" "" "" "00457968" "1" "" "00006" "{PMID:Wilson 2024:38821050}" "brother" "M" "" "Canada" "" "0" "" "" "" "Fam3Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00334776" "04214" "00334777" "04214" "00334778" "04214" "00434876" "00198" "00457966" "05461" "00457967" "05461" "00457968" "05461" "00457969" "05461" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 05461, 07130 ## Count = 5 "{{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}}" "0000325115" "00198" "00434876" "00006" "Unknown" "" "seizures, global developmental delay, hypotonia, sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000346416" "05461" "00457966" "00006" "Familial, X-linked recessive" "7y" "see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; no epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral hypoplasia cranial nerves V, VII and VIII; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; hepatosplenomegaly in infancy; obstipation; hypertrichosis arms and legs; severe apnea episodes; contractures elbows and knees" "" "" "" "" "" "" "" "" "CDG1DD" "glycosylation disorder" "" "0000346417" "05461" "00457967" "00006" "Familial, X-linked recessive" "11m" "see paper; ..., 11m-deceased; facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; bilateral sensorineural hearing loss, auditory evoked potentials inconclusive; MRI brain small corpus callosum; no ophthalmological anomalies; failure to thrive; gastrostomy tube feeding; cholestasis, hepatomegaly; ichthyosis; persistent ductus arteriosus" "" "" "" "" "" "" "" "" "CDG1DD" "glycosylation disorder" "" "0000346418" "05461" "00457968" "00006" "Familial, X-linked recessive" "6y" "see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain mild thinning corpus callosum, bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; bilateral neurotrophic keratopathy; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; eczema; stridor; severe obstructive sleep apnea requiring BiPAP; scoliosis; knee contractures" "" "" "" "" "" "" "" "" "CDG1DD" "glycosylation disorder" "" "0000346419" "05461" "00457969" "00006" "Familial, X-linked recessive" "4y" "see paper; ..., facial dysmorphism; severe developmental delay, severe intellectual disability; epilepsy; axial hypotonia; profound bilateral sensorineural hearing loss; MRI brain bilateral absence of the cochlear nerves, superior and inferior vestibular nerves bilaterally absent/hypoplastic; corneal erosion right eye; failure to thrive; gastrostomy tube feeding; no hepato(spleno)megaly; gastroesophageal reflux disease; no dermatological findings; stridor; respiratory insufficiency requiring BiPAP; scoliosis knee contractures" "" "" "" "" "" "" "" "" "CDG1DD" "glycosylation disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000336005" "00334776" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000336006" "00334777" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000336007" "00334778" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000436348" "00434876" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459586" "00457966" "1" "00006" "00006" "2024-11-23 10:44:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459587" "00457967" "1" "00006" "00006" "2024-11-23 10:44:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459588" "00457968" "1" "00006" "00006" "2024-11-23 10:44:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459589" "00457969" "1" "00006" "00006" "2024-11-23 10:44:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 15 "{{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}}" "0000693535" "0" "30" "X" "2406810" "2406810" "subst" "8.13233E-6" "01943" "DHRSX_000001" "g.2406810C>T" "" "" "" "ZBED1(NM_001171135.1):c.1951G>A (p.A651T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734917" "0" "30" "X" "2137767" "2137767" "subst" "0" "00000" "DHRSX_000002" "g.2137767T>G" "12/25 families" "{PMID:Maranhao 2015:26352687}" "" "DHRSX:c.*1315A>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734918" "0" "30" "X" "2138260" "2138260" "subst" "0" "00000" "DHRSX_000003" "g.2138260C>T" "11/25 families" "{PMID:Maranhao 2015:26352687}" "" "DHRSX:c.*822G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734919" "0" "30" "X" "2138783" "2138783" "subst" "0" "00000" "DHRSX_000004" "g.2138783G>A" "8/25 families" "{PMID:Maranhao 2015:26352687}" "" "DHRSX:c.*299C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000810240" "0" "50" "X" "2343264" "2343264" "subst" "5.28558E-5" "01943" "DHRSX_000005" "g.2343264G>A" "" "" "" "DHRSX(NM_145177.2):c.191C>T (p.A64V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810252" "0" "50" "X" "2407844" "2407844" "subst" "4.06851E-6" "01943" "DHRSX_000006" "g.2407844G>A" "" "" "" "ZBED1(NM_001171135.1):c.917C>T (p.P306L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867283" "0" "30" "X" "2407473" "2407473" "subst" "0.00015856" "01943" "DHRSX_000007" "g.2407473G>A" "" "" "" "ZBED1(NM_001171135.1):c.1288C>T (p.L430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922710" "21" "70" "X" "2161225" "2161225" "subst" "3.25296E-5" "00006" "DHRSX_000008" "g.2161225G>A" "" "{PMID:Gostain 2020:32960281}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.2243184G>A" "" "VUS" "" "0000922716" "11" "70" "X" "2184836" "2184836" "subst" "1.21971E-5" "00006" "DHRSX_000009" "g.2184836C>A" "" "{PMID:Gostain 2020:32960281}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.2266795C>A" "" "VUS" "" "0001017654" "3" "90" "X" "2184836" "2184836" "subst" "1.21971E-5" "00006" "DHRSX_000009" "g.2184836C>A" "" "{PMID:Wilson 2024:38821050}" "" "" "" "Germline" "" "" "0" "" "" "g.2266795C>A" "" "pathogenic (recessive)" "" "0001017655" "3" "90" "X" "2343309" "2343309" "subst" "6.09875E-5" "00006" "DHRSX_000010" "g.2343309G>A" "" "{PMID:Wilson 2024:38821050}" "" "" "" "Germline" "" "" "0" "" "" "g.2425268G>A" "" "pathogenic (recessive)" "" "0001017656" "21" "90" "X" "2184836" "2184836" "subst" "1.21971E-5" "00006" "DHRSX_000009" "g.2184836C>A" "" "{PMID:Wilson 2024:38821050}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2266795C>A" "" "pathogenic (recessive)" "" "0001017657" "21" "90" "X" "2184836" "2184836" "subst" "1.21971E-5" "00006" "DHRSX_000009" "g.2184836C>A" "" "{PMID:Wilson 2024:38821050}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2266795C>A" "" "pathogenic (recessive)" "" "0001017658" "11" "90" "X" "2161225" "2161225" "subst" "3.25296E-5" "00006" "DHRSX_000008" "g.2161225G>A" "" "{PMID:Wilson 2024:38821050}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2243184G>A" "" "pathogenic (recessive)" "" "0001017659" "11" "90" "X" "2161225" "2161225" "subst" "3.25296E-5" "00006" "DHRSX_000008" "g.2161225G>A" "" "{PMID:Wilson 2024:38821050}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2243184G>A" "" "pathogenic (recessive)" "" ## 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 DHRSX ## Count = 15 "{{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}}" "0000693535" "00006399" "30" "109" "12048" "109" "12048" "c.109+12048G>A" "r.(=)" "p.(=)" "" "0000734917" "00006399" "30" "2308" "0" "2308" "0" "c.*1315A>C" "r.(=)" "p.(=)" "" "0000734918" "00006399" "30" "1815" "0" "1815" "0" "c.*822G>A" "r.(=)" "p.(=)" "" "0000734919" "00006399" "30" "1292" "0" "1292" "0" "c.*299C>T" "r.(=)" "p.(=)" "" "0000810240" "00006399" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0000810252" "00006399" "50" "109" "11014" "109" "11014" "c.109+11014C>T" "r.(=)" "p.(=)" "" "0000867283" "00006399" "30" "109" "11385" "109" "11385" "c.109+11385C>T" "r.(=)" "p.(=)" "" "0000922710" "00006399" "70" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Leu215Phe)" "" "0000922716" "00006399" "70" "541" "0" "541" "0" "c.541G>T" "r.(?)" "p.(Val181Phe)" "" "0001017654" "00006399" "90" "541" "0" "541" "0" "c.541G>T" "r.(?)" "p.(Val181Phe)" "" "0001017655" "00006399" "90" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Thr49Met)" "" "0001017656" "00006399" "90" "541" "0" "541" "0" "c.541G>T" "r.(?)" "p.(Val181Phe)" "" "0001017657" "00006399" "90" "541" "0" "541" "0" "c.541G>T" "r.(?)" "p.(Val181Phe)" "" "0001017658" "00006399" "90" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Leu215Phe)" "" "0001017659" "00006399" "90" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Leu215Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000336005" "0000734917" "0000336006" "0000734918" "0000336007" "0000734919" "0000436348" "0000922710" "0000436348" "0000922716" "0000459586" "0001017654" "0000459587" "0001017655" "0000459588" "0001017656" "0000459588" "0001017658" "0000459589" "0001017657" "0000459589" "0001017659"