### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIAH1) # 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}}" "SIAH1" "siah E3 ubiquitin protein ligase 1" "16" "q12" "unknown" "NG_029599.1" "UD_132084460657" "" "https://www.LOVD.nl/SIAH1" "" "1" "10857" "6477" "602212" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-02-19 17:48:41" "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}}" "00018904" "SIAH1" "seven in absentia homolog 1 (Drosophila), transcript variant 2" "001" "NM_001006610.1" "" "NP_001006611.1" "" "" "" "-396" "1991" "942" "48399784" "48394442" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00332519" "" "" "" "1" "" "00006" "{PMID:Buratti 2021:32430360}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "Pat1" "00332520" "" "" "" "1" "" "00006" "{PMID:Buratti 2021:32430360}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Pat2" "00332521" "" "" "" "1" "" "00006" "{PMID:Buratti 2021:32430360}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Europe;China;Costa Rica" "Pat3" "00332522" "" "" "" "1" "" "00006" "{PMID:Buratti 2021:32430360}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea" "" "0" "" "" "" "Pat4" "00332523" "" "" "" "1" "" "00006" "{PMID:Buratti 2021:32430360}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "White white" "Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00332519" "00198" "00332520" "00198" "00332521" "00198" "00332522" "00198" "00332523" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## 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}}" "0000250703" "00198" "00332519" "00006" "Isolated (sporadic)" "18m" "birth 39w, weight 3200g; weight 9.9 kg (7th %tile); length 81 cm (44th %tile); OFC 46.5 cm (19th %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; recurrent pneumonia; serous otitis media; motor delay; speech delay; ECG normal; ophthalmology examination normal; dysmorphic features; epicanthal folds; hypertelorism; downslanting palpebral fissures; medially sparse eyebrows; high arched palate, submucous cleft; micrognathia; small, low set, posteriorly rotated ears; no single transverse palmar crease; no broad thumbs and first toes; no fifth finger clinodactyly; no hypoplastic nails; no hypospadias; no undescended testes" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000250708" "00198" "00332520" "00006" "Isolated (sporadic)" "15y" "birth 40w, weight 3390g; weight 65 kg (82nd %tile); length 155.5 cm (6th %tile); OFC 53.5 cm (45th %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; no recurrent pneumonia; no serous otitis media; no motor delay; speech delay; learning difficulties; ECG normal; left esotropia; MRI brain normal; renal ultrasound normal; dysmorphic features; epicanthal folds; hypertelorism; downslanting palpebral fissures; medially sparse eyebrows; bifid uvula; prognathism; small, low set, posteriorly rotated ears; no single transverse palmar crease; broad thumbs and first toes; fifth finger clinodactyly; hypoplastic nails" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000250709" "00198" "00332521" "00006" "Isolated (sporadic)" "23m" "birth 38w, weight 2920g; weight 11.3 kg (27th %tile); length 86.5 cm (35th %tile); OFC 45.5 cm (2nd %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; no recurrent pneumonia; serous otitis media; motor delay; speech delay; strabismus, bilateral ptosis s/p surgical repair; MRI brain normal; renal ultrasound normal; dysmorphic features; epicanthal folds; hypertelorism; no downslanting palpebral fissures; medially sparse eyebrows; submucous cleft palate, velopharyngeal incompetence; micrognathia; small, low set, posteriorly rotated ears; single transverse palmar crease; no broad thumbs and first toes; fifth finger clinodactyly; no hypoplastic nails; hypospadias; unilateral undescended testes (left), s/p repair" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000250710" "00198" "00332522" "00006" "Isolated (sporadic)" "4y2m" "birth 35w, weight 2500g; weight 13.1 kg (Z-score −2.17); length 96 cm (4th %tile); OFC 50 cm (36th %tile); infantile hypotonia; no laryngomalacia; gastro-oesophageal reflux disease; recurrent pneumonia; no serous otitis media; motor delay; speech delay; learning difficulties; ECG atrial septal defect; exotropia; MRI brain predominant perivascular space, no structural anomaly; dysmorphic features; epicanthal folds; hypertelorism; no downslanting palpebral fissures; medially sparse eyebrows; high arched palate; no micrognathia; small, low set, posteriorly rotated ears; no single transverse palmar crease; no broad thumbs and first toes; fifth finger clinodactyly; no hypoplastic nails; no hypospadias; undescended testes" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000250711" "00198" "00332523" "00006" "Isolated (sporadic)" "11y" "birth 39w, weight 2990g; weight 38.7 kg (50th %tile); length 135 cm (9th %tile); OFC 54 cm (75th %tile); infantile hypotonia; laryngomalacia; no gastro-oesophageal reflux disease; no recurrent pneumonia; no serous otitis media; motor delay; speech delay; global mild/moderate learning difficulties; ECG normal; no ophthalmology examination; dysmorphic features; no epicanthal folds; hypertelorism; downslanting palpebral fissures; medially sparse eyebrows; no palate; no micrognathia; small, low set, posteriorly rotated ears; no single transverse palmar crease; broad thumbs and first toes; fifth finger clinodactyly; no hypoplastic nails" "" "" "" "" "" "" "" "" "" "developmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000333743" "00332519" "1" "00006" "00006" "2021-02-19 19:14:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000333744" "00332520" "1" "00006" "00006" "2021-02-19 19:14:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000333745" "00332521" "1" "00006" "00006" "2021-02-19 19:14:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000333746" "00332522" "1" "00006" "00006" "2021-02-19 19:14:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000333747" "00332523" "1" "00006" "00006" "2021-02-19 19:14:15" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000333743" "SIAH1" "0000333744" "SIAH1" "0000333745" "SIAH1" "0000333746" "SIAH1" "0000333747" "SIAH1" ## 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 = 9 "{{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}}" "0000558281" "0" "50" "16" "48395907" "48395907" "subst" "0" "02327" "LONP2_000001" "g.48395907T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48361996T>C" "" "VUS" "" "0000731531" "0" "70" "16" "48395838" "48395838" "subst" "0" "00006" "SIAH1_000002" "g.48395838T>C" "" "{PMID:Buratti 2021:32430360}" "" "NM_003031.3:c.502A>G" "" "De novo" "" "" "0" "" "" "g.48361927T>C" "" "likely pathogenic (dominant)" "" "0000731532" "0" "70" "16" "48395957" "48395957" "subst" "0" "00006" "SIAH1_000003" "g.48395957C>A" "" "{PMID:Buratti 2021:32430360}" "" "NM_003031.3:c.383G>T" "" "De novo" "" "" "0" "" "" "g.48362046C>A" "" "likely pathogenic (dominant)" "" "0000731533" "0" "70" "16" "48396219" "48396219" "subst" "0" "00006" "SIAH1_000005" "g.48396219A>C" "" "{PMID:Buratti 2021:32430360}" "" "NM_003031.3:c.121T>G" "" "De novo" "" "" "0" "" "" "g.48362308A>C" "" "likely pathogenic (dominant)" "" "0000731534" "0" "70" "16" "48395820" "48395820" "subst" "0" "00006" "SIAH1_000001" "g.48395820C>G" "" "{PMID:Buratti 2021:32430360}" "" "NM_003031.3:c.520G>C" "" "De novo" "" "" "0" "" "" "g.48361909C>G" "" "likely pathogenic (dominant)" "" "0000731535" "0" "70" "16" "48396191" "48396191" "subst" "0" "00006" "SIAH1_000004" "g.48396191G>A" "" "{PMID:Buratti 2021:32430360}" "" "NM_003031.3:c.149C>T" "" "De novo" "" "" "0" "" "" "g.48362280G>A" "" "likely pathogenic (dominant)" "" "0001002378" "0" "50" "16" "48395696" "48395696" "subst" "4.06164E-6" "02325" "LONP2_000002" "g.48395696C>A" "" "" "" "SIAH1(NM_001006610.2):c.737G>T (p.R246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015394" "0" "50" "16" "48395609" "48395609" "subst" "0" "02329" "LONP2_000003" "g.48395609T>C" "" "" "" "SIAH1(NM_003031.4):c.731A>G (p.H244R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041152" "0" "50" "16" "48385559" "48385559" "subst" "9.74698E-5" "01804" "LONP2_000004" "g.48385559G>A" "" "" "" "LONP2(NM_031490.5):c.2405G>A (p.(Arg802Gln))" "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 SIAH1 ## Count = 9 "{{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}}" "0000558281" "00018904" "50" "526" "0" "526" "0" "c.526A>G" "r.(?)" "p.(Met176Val)" "" "0000731531" "00018904" "70" "595" "0" "595" "0" "c.595A>G" "r.(?)" "p.(Thr199Ala)" "" "0000731532" "00018904" "70" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Cys159Phe)" "" "0000731533" "00018904" "70" "214" "0" "214" "0" "c.214T>G" "r.(?)" "p.(Cys72Gly)" "" "0000731534" "00018904" "70" "613" "0" "613" "0" "c.613G>C" "r.(?)" "p.(Gly205Arg)" "" "0000731535" "00018904" "70" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0001002378" "00018904" "50" "737" "0" "737" "0" "c.737G>T" "r.(?)" "p.(Arg246Leu)" "" "0001015394" "00018904" "50" "824" "0" "824" "0" "c.824A>G" "r.(?)" "p.(His275Arg)" "" "0001041152" "00018904" "50" "10874" "0" "10874" "0" "c.*9932C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000333743" "0000731531" "0000333744" "0000731532" "0000333745" "0000731533" "0000333746" "0000731534" "0000333747" "0000731535"