### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAP3K20) # 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}}" "MAP3K20" "mitogen-activated protein kinase kinase kinase 20" "2" "q31.1" "unknown" "NG_029373.1" "NC_000002.11" "" "https://www.LOVD.nl/MAP3K20" "" "1" "17797" "51776" "609479" "1" "1" "1" "1" "Alias ZAK.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MAP3K20_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2020-05-25 00:00:00" "00006" "2020-05-25 13:47:20" "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}}" "00025511" "MAP3K20" "transcript variant 1" "002" "NM_016653.2" "" "NP_057737.2" "" "" "" "-200" "3662" "2403" "173940565" "174132737" "00001" "2020-05-25 12:30:39" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05756" "CNM6" "myopathy, centronuclear, type 6, with fiber-type disproportion (CNM6)" "AR" "617760" "" "" "" "00006" "2020-05-25 13:38:36" "" "" "05757" "SFMMP" "split-foot malformation with mesoaxial polydactyly (SFMMP)" "AR" "616890" "" "" "" "00006" "2020-05-25 13:40:12" "00006" "2020-05-25 13:40:30" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MAP3K20" "05756" "MAP3K20" "05757" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00301738" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "F" "" "China" "" "0" "" "" "" "14DG0265" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00301738" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05756, 05757 ## Count = 1 "{{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}}" "0000228836" "00198" "00301738" "00006" "Familial, autosomal recessive" "" "myopathy, failure to thrive; born following an uneventful pregnancy. Neonatal history was remarkable for poor sucking. Initially, the main concern about her health was regarding her poor weight gain and she was labeled by her physician as failure to thrive when all growth parameters were presumably below the 3rd centile. Later, it became apparent that she had motor delays. She only took independent steps on a flat service at 28m after intensive physical therapy, she was still unable to make intelligible words. Of note, the muscle weakness, while generalized, also involves the neck to the point that she struggles to keep her head straight as it tends to fall forward as if she is unable to support it with her muscles. The pastmedical history is largely negative otherwise and the review of systems did not reveal any salient symptoms such as abnormal movements or seizures. Family history is remarkable for parents being consanguineous and a paternal uncle with unexplained myopathy. CK was never grossly elevated. Muscle biopsy revealed findings suggestive of congenital myopathy. Her brain MRI was was normal. Her thyroid function test was also normal" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302862" "00301738" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000302862" "MLK7-AS1" ## 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}}" "0000666219" "3" "50" "2" "174074460" "174074460" "subst" "0" "00006" "MLK7-AS1_000001" "g.174074460C>T" "" "{PMID:Maddirevula 2019:30237576}" "" "NM_016653.2:c.748C>T (Arg250Trp)" "ACMG PM2, PP1" "Germline" "" "" "0" "" "" "g.173209732C>T" "" "VUS" "ACMG" "0000799845" "0" "50" "2" "174097067" "174097067" "subst" "1.62569E-5" "01804" "MLK7-AS1_000002" "g.174097067G>A" "" "" "" "MAP3K20(NM_016653.2):c.1083G>A (p.(Met361Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849080" "0" "30" "2" "174131394" "174131394" "subst" "0" "02326" "MLK7-AS1_000003" "g.174131394C>T" "" "" "" "MAP3K20(NM_016653.2):c.2319C>T (p.Y773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974479" "0" "30" "2" "174128561" "174128561" "subst" "0.00113685" "02326" "MLK7-AS1_000004" "g.174128561A>T" "" "" "" "MAP3K20(NM_016653.2):c.1640A>T (p.Q547L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024262" "0" "50" "2" "174047600" "174047600" "subst" "0" "02329" "MAP3K20_000001" "g.174047600C>T" "" "" "" "MAP3K20(NM_133646.3):c.266C>T (p.S89L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032532" "0" "50" "2" "174074554" "174074554" "subst" "0.000166623" "01804" "MLK7-AS1_000005" "g.174074554C>T" "" "" "" "MAP3K20(NM_016653.3):c.842C>T (p.(Ala281Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032533" "0" "30" "2" "174085981" "174085981" "subst" "0.000138159" "01804" "MLK7-AS1_000006" "g.174085981G>A" "" "" "" "MAP3K20(NM_133646.3):c.1091G>A (p.(Ser364Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 MAP3K20 ## 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}}" "0000666219" "00025511" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Trp)" "" "0000799845" "00025511" "50" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Met361Ile)" "" "0000849080" "00025511" "30" "2319" "0" "2319" "0" "c.2319C>T" "r.(?)" "p.(Tyr773=)" "" "0000974479" "00025511" "30" "1640" "0" "1640" "0" "c.1640A>T" "r.(?)" "p.(Gln547Leu)" "" "0001024262" "00025511" "50" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Ser89Leu)" "" "0001032532" "00025511" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Ala281Val)" "" "0001032533" "00025511" "30" "987" "4003" "987" "4003" "c.987+4003G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000302862" "0000666219"