### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SAMD7) # 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}}" "SAMD7" "sterile alpha motif domain containing 7" "3" "q26.31" "unknown" "NC_000003.11" "UD_132939666579" "" "https://www.LOVD.nl/SAMD7" "" "1" "25394" "344658" "620493" "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" "2024-02-15 21:19:53" "00006" "2024-02-16 14:31:11" ## 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}}" "00025913" "SAMD7" "transcript variant 1 (removed from reference sequence)" "000" "NM_001304366.1" "" "NP_001291295.1" "" "" "RefSeq select" "-366" "2021" "1341" "1" "1" "00006" "2024-02-15 21:13:43" "" "" ## 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}}" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SAMD7" "04249" ## 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}}" "00436789" "" "" "" "1" "" "04333" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "2-generation family, 1 affected, unaffected parents" "F" "?" "Israel" "" "0" "" "" "Yemenite;Jew" "Fam1R1124" "00436809" "" "" "" "1" "" "04333" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam3GC22085" "00436810" "" "" "" "2" "" "04333" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "2-generation family, affected sister/brother, unaffected parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam4GC28331.1" "00436811" "" "" "00436810" "1" "" "04333" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam4GC28331.2" "00436830" "" "" "" "3" "" "04333" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "2-generation family, affected father/2 sons" "M" "yes" "Morocco" "" "0" "" "" "" "Fam2D1804026" "00436831" "" "" "" "1" "" "04333" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "2-generation family, 1 affected, unaffected parents" "F" "?" "" "" "0" "" "" "Africa" "Fam5D2112274" "00436832" "" "" "" "1" "" "04333" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam6CHlaus0429" "00448130" "" "" "00436830" "1" "" "00006" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "father" "M" "yes" "Morocco" "" "0" "" "" "" "Fam2D2309613" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00436789" "00381" "00436809" "00381" "00436810" "00381" "00436811" "00381" "00436830" "00381" "00436831" "00381" "00436832" "00381" "00448130" "00381" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00381, 04249 ## Count = 8 "{{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}}" "0000326891" "00381" "00436789" "04333" "Familial, autosomal recessive" "50y" "macular atrophy; FF-ERG scotopic a-wave in normal range/b-wave moderately reduced, photopic moderately reduced; fundus complete hypoautofluorescence extending to arcades, surrounded by hyperautofluorescent speckled changes; OCT complete retinal pigmented epithelium and outer retinal atrophy, surrounded by focal retinal pigmented epithelium irregularities" "" "25y" "" "benyosef" "" "" "" "" "macular dystrophy with cone dysfunction" "0000326910" "00381" "00436809" "04333" "Familial, autosomal recessive" "57y" "fundus maculopathy; FF-ERG scotopic in normal range, photopic in normal range; fundus central speckled hyperautofluorescence (pattern-like); OCT bilateral central outer retinal disruption with intraretinal hyperreflective deposits, bilateral perifoveal outer retinal disruption, bilateral thickening retinal pigmented epithelium and ellipsoid zoneMacular dystrophy" "" "49y" "" "" "" "" "" "" "macular dystrophy, no cone dysfunction" "0000326911" "00381" "00436810" "04333" "Familial, autosomal recessive" "38y" "fundus macular atrophy; FF-ERG scotopic in normal rangei, photopic a-wave in normal range/b-wave mildly reduced; fundus central ring mottled hypoautofluorescence, surrounded by hyperautofluorescent ring; OCT central outer retinal loss both eyes" "" "35y" "" "benyosef" "" "" "" "" "macular dystrophy with cone dysfunction" "0000326912" "00381" "00436811" "04333" "Familial, autosomal recessive" "29y" "fundus macular atrophy; FF-ERG scotopic in normal rangei, photopic a-wave in normal range/b-wave mildly reduced; fundus central ring mottled hypoautofluorescence, surrounded by hyperautofluorescent ring; OCT central outer retinal loss both eyes" "" "26y" "" "" "" "" "" "" "macular dystrophy with cone dysfunction" "0000326914" "00381" "00436830" "04333" "Familial, autosomal recessive" "23y" "fundus macular atrophy; FF-ERG scotopic mildly reduced, photopic mildly reduced; fundus foveolar hyperautofluorescence surrounded by mottled hypo-autofluorescence with hyperautofluorescent border; OCT foveal thinning due to outer retinal atrophy, temporal peripapillary retinal nerve fiber layer thinning" "" "14y" "" "" "" "" "" "" "macular dystrophy with cone-rod dystrophy" "0000326915" "00381" "00436831" "04333" "Familial, autosomal recessive" "50y" "fundus maculopathy; FF-ERG scotopic in normal rangei, photopic in normal range; fundus central mottled hypoautofluorescence surrounded by hyperautofluorescent rim both eyes, few hyperautofluorescent speckles right eye; OCT irregularity ellipsoid zone and focal thickening retinal pigmented epithelium, with small hyperreflective linear lesions migrating above external limiting membrane" "" "42y" "" "" "" "" "" "" "macular dystrophy, no cone dysfunction" "0000326916" "00381" "00436832" "04333" "Familial, autosomal recessive" "39y" "fundus macular atrophy; FF-ERG scotopic in normal rangei, photopic mildly reduced; fundus central mottled hypoautofluorescence with few hyperautofluorescent speckles, surrounded by hyperautofluorescent rim both eyes; OCT irregularity ellipsoid zone and focal thickening retinal pigmented epithelium, with small hyperreflective linear lesions migrating above external" "" "37y" "" "" "" "" "" "" "macular dystrophy with cone dysfunction" "0000337337" "00381" "00448130" "00006" "Familial, autosomal recessive" "51y" "fundus maculopathy; FF-ERG scotopic moderately reduced, photopic moderately reduced; fundus foveolar hyper- and hypo-autofluorescent rings and strongly hyperautofluorescent linear lesions of the parafovea; OCT foveal thinning due to outer nuclear layer thinning; irregular ellipsoid zone and retinal pigmented epithelium thickenings, normal peripapillary nerve fiber layer thickness" "" "51y" "" "" "" "" "" "" "macular dystrophy with cone dysfunction" ## 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}}" "0000438268" "00436789" "1" "04333" "04333" "2023-10-07 12:22:44" "" "" "SEQ-NG" "DNA" "" "" "0000438288" "00436809" "1" "04333" "04333" "2023-10-09 09:20:54" "" "" "SEQ-NG" "DNA" "" "" "0000438289" "00436810" "1" "04333" "04333" "2023-10-09 09:28:39" "" "" "SEQ-NG" "DNA" "" "" "0000438290" "00436811" "1" "04333" "04333" "2023-10-09 09:32:59" "" "" "SEQ-NG" "DNA" "" "" "0000438309" "00436830" "1" "04333" "04333" "2023-10-10 11:16:23" "" "" "SEQ-NG" "DNA" "" "" "0000438310" "00436831" "1" "04333" "04333" "2023-10-10 11:22:32" "" "" "SEQ-NG" "DNA" "" "" "0000438311" "00436832" "1" "04333" "04333" "2023-10-10 11:32:22" "" "" "SEQ-NG" "DNA" "" "" "0000449703" "00448130" "1" "00006" "00006" "2024-02-16 13:59:49" "" "" "SEQ-NG" "DNA" "" "" ## 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 = 8 "{{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}}" "0000933878" "3" "90" "3" "169642925" "169642925" "subst" "0" "04333" "SAMD7_000001" "g.169642925G>A" "" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.169925137G>A" "" "pathogenic (recessive)" "" "0000933902" "3" "90" "3" "169639127" "169639127" "subst" "0" "04333" "SAMD7_000005" "g.169639127G>A" "" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.169921339G>A" "" "pathogenic (recessive)" "" "0000933903" "3" "90" "3" "169639127" "169639127" "subst" "0" "04333" "SAMD7_000005" "g.169639127G>A" "" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.169921339G>A" "" "pathogenic (recessive)" "" "0000933904" "3" "90" "3" "169639127" "169639127" "subst" "0" "04333" "SAMD7_000005" "g.169639127G>A" "" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.169921339G>A" "" "pathogenic (recessive)" "" "0000933930" "3" "90" "3" "169644970" "169644970" "subst" "0" "04333" "SAMD7_000003" "g.169644970G>A" "" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.169927182G>A" "" "pathogenic (recessive)" "" "0000933931" "3" "90" "3" "169656106" "169656106" "subst" "0" "04333" "SAMD7_000004" "g.169656106G>A" "" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.169938318G>A" "" "pathogenic (recessive)" "" "0000933932" "3" "90" "3" "169646317" "169646317" "subst" "0" "04333" "SAMD7_000002" "g.169646317A>T" "" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "" "" "" "Germline" "" "" "0" "" "" "g.169928529A>T" "" "pathogenic (recessive)" "" "0000960141" "3" "90" "3" "169644970" "169644970" "subst" "0" "00006" "SAMD7_000003" "g.169644970G>A" "" "{PMID:Bauwens 2024:38272031}, {DOI:Bauwens 2024:10.1016/j.ajhg.2024.01.001}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.169927182G>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 SAMD7 ## Count = 8 "{{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}}" "0000933878" "00025913" "90" "290" "1" "290" "1" "c.290+1G>A" "r.(212_290del)" "p.(Trp72Glnfs*20)" "5i" "0000933902" "00025913" "90" "211" "1" "211" "1" "c.211+1G>A" "r.(87_211del)" "p.(Asp30Leufs*5)" "4i" "0000933903" "00025913" "90" "211" "1" "211" "1" "c.211+1G>A" "r.(87_211del)" "p.(Asp30Leufs*5)" "4i" "0000933904" "00025913" "90" "211" "1" "211" "1" "c.211+1G>A" "r.(87_211del)" "p.(Asp30Leufs*5)" "4i" "0000933930" "00025913" "90" "919" "1" "919" "1" "c.919+1G>A" "r.[(919_920ins[a;919+2_920-1],291_919del)]" "p.[(Gly307Aspfs*27,Thr97Asnfs*13)]" "6i" "0000933931" "00025913" "90" "1153" "0" "1153" "0" "c.1153G>A" "r.[(1153g>a,1153_(*660_?)del)]" "p.[(Val385Ile),?)]" "9" "0000933932" "00025913" "90" "992" "0" "992" "0" "c.992A>T" "r.(?)" "p.(Asp331Val)" "" "0000960141" "00025913" "90" "919" "1" "919" "1" "c.919+1G>A" "r.[(919_920ins[a;919+2_920-1],291_919del)]" "p.[(Gly307Aspfs*27,Thr97Asnfs*13)]" "6i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000438268" "0000933878" "0000438288" "0000933902" "0000438289" "0000933903" "0000438290" "0000933904" "0000438309" "0000933930" "0000438310" "0000933931" "0000438311" "0000933932" "0000449703" "0000960141"