### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GALNT10) # 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}}" "GALNT10" "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)" "5" "q34" "unknown" "NC_000005.9" "UD_132612577334" "" "https://www.LOVD.nl/GALNT10" "" "1" "19873" "55568" "608043" "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/GALNT10_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-04-10 16:18:50" "00006" "2021-04-10 16:21:58" ## 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}}" "00001005" "GALNT10" "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)" "001" "NM_198321.3" "" "NP_938080.1" "" "" "" "-132" "5824" "1812" "153570295" "153800544" "00000" "2012-09-13 13:06:08" "" "" ## 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}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04062" "BBSOAS" "Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)" "AD" "615722" "" "developmental delay, speech delay 0.96 (44/46), motor delay 0.87 (41/47)), hypotonia 0.84 (39/46), optic nerve atrophy 0.83 (30/36), nystagmus (0.82 (37/45),strabismus 0.77 (34/44)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-24 12:35:13" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00311092" "" "" "" "1" "" "03763" "{PMID:Brown 2009:19353646}" "" "F" "" "" "" "0" "" "" "" "DGAP169" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00311092" "04062" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 04062 ## Count = 3 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000236348" "04062" "00311092" "03763" "Isolated (sporadic)" "00y02m" "Caesarian section (HP:0011410); Poor suck (HP:0002033); Dysphagia (HP:0002015); Abnormality of the scalp hair (HP:0100037); Facial asymmetry (HP:0000324); Upslanted palpebral fissure (HP:0000582); Anteverted nares (HP:0000463); Broad nasal tip (HP:0000455); Micrognathia (HP:0000347); Abnormality of the pinna (HP:0000377); Muscular hypotonia of the trunk (HP:0008936); Reduced tendon reflexes (HP:0001315); Profound sensorineural hearing impairment (HP:0011476); Abnormality of the vestibulocochlear nerve (HP:0009591); Cochlear malformation (HP:0008554); Abnormality of the middle ear ossicles (HP:0004452); Abnormality of the vestibular window (HP:0040100); Abnormality of the seventh cranial nerve (HP:0010827); Growth delay (HP:0001510); Apneic episodes in infancy (HP:0005949); Strabismus (HP:0000486); Temporal hypotrichosis (HP:0004524); Delayed gross motor development (HP:0002194); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750);" "00y00m01d" "" "" "" "" "" "" "" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000312243" "00311092" "1" "03763" "03763" "2020-09-17 11:29:58" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000312243" "NR2F1" ## 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 = 7 "{{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}}" "0000004237" "0" "50" "5" "153716667" "153716667" "subst" "0" "00037" "GALNT10_000001" "g.153716667C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154337107C>T" "" "VUS" "" "0000004238" "0" "50" "5" "153717233" "153717233" "subst" "0" "00037" "GALNT10_000002" "g.153717233G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154337673G>A" "" "VUS" "" "0000004239" "0" "50" "5" "153717653" "153717653" "subst" "0" "00037" "GALNT10_000004" "g.153717653A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154338093A>G" "" "VUS" "" "0000004240" "0" "50" "5" "153718007" "153718007" "subst" "0" "00037" "GALNT10_000005" "g.153718007A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154338447A>G" "" "VUS" "" "0000012223" "3" "50" "5" "153717233" "153717233" "subst" "0" "00037" "GALNT10_000002" "g.153717233G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154337673G>A" "" "VUS" "" "0000012224" "3" "50" "5" "153718007" "153718007" "subst" "0" "00037" "GALNT10_000005" "g.153718007A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154338447A>G" "" "VUS" "" "0000763434" "0" "50" "5" "153495446" "153647252" "del" "0" "00006" "GALNT10_000006" "g.(153390771_153495446)_(153647252_153872038)del" "" "{PMID:Brown 2010:19353646}" "" "" "NR2F1 and AK124699 removed, C5ORF21 partially deleted, cryptic 450-460kB deletion at both q15 and 5q33.2 break points" "De novo" "" "" "0" "" "" "" "" "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 GALNT10 ## Count = 7 "{{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}}" "0000004237" "00001005" "50" "568" "7369" "568" "7369" "c.568+7369C>T" "r.(=)" "p.(=)" "" "0000004238" "00001005" "50" "568" "7935" "568" "7935" "c.568+7935G>A" "r.(=)" "p.(=)" "" "0000004239" "00001005" "50" "568" "8355" "568" "8355" "c.568+8355A>G" "r.(=)" "p.(=)" "" "0000004240" "00001005" "50" "568" "8709" "568" "8709" "c.568+8709A>G" "r.(=)" "p.(=)" "" "0000012223" "00001005" "50" "568" "7935" "568" "7935" "c.568+7935G>A" "r.(=)" "p.(=)" "" "0000012224" "00001005" "50" "568" "8709" "568" "8709" "c.568+8709A>G" "r.(=)" "p.(=)" "" "0000763434" "00001005" "90" "0" "0" "0" "0" "-132_*4012{0}" "r.0" "p.0" "_1_12_" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004237" "0000000209" "0000004238" "0000000209" "0000004239" "0000000209" "0000004240" "0000000210" "0000012223" "0000000210" "0000012224" "0000312243" "0000763434"