### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLEKHA7) # 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}}" "PLEKHA7" "pleckstrin homology domain containing, family A member 7" "11" "p15" "unknown" "NC_000011.9" "UD_132319436335" "" "http://www.LOVD.nl/PLEKHA7" "" "1" "27049" "144100" "612686" "1" "1" "1" "1" "change to MANE NM_001329630.2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-12-17 14:40:10" "00000" "2024-08-28 13:16:32" ## 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}}" "00000808" "PLEKHA7" "pleckstrin homology domain containing, family A member 7" "001" "NM_175058.4" "" "NP_778228.3" "" "" "" "-15" "4793" "3366" "16809207" "17035963" "00000" "2012-09-13 12:53:40" "" "" ## 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" "06885" "AMD" "dysplasia, acromesomelic" "" "" "" "" "" "00006" "2021-12-16 18:32:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00396708" "" "" "" "1" "" "00006" "{PMID:Díaz-Gonzalez 2021:33106379}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00396708" "06885" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 06885 ## Count = 2 "{{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}}" "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" "" "" "" "" "" "" "" "0000289869" "06885" "00396708" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., severe short stature, adult height 130cm (Est); acromesomelia; bowed forearm; brachydactyly; broad hypoplasia hand phalanges; hyperlordosis; no talipes equinovarus; normal toes; no nail aplasia/hypoplasia; no facial dysmorphism; radiology normal skull, short pedicles, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees" "" "" "" "" "" "" "" "AMD4" "acromesomelic dysplasia" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000397951" "00396708" "1" "00006" "00006" "2021-12-16 19:06:48" "" "" "SEQ;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 = 11 "{{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}}" "0000010538" "0" "50" "11" "16996173" "16996175" "del" "0" "00037" "PLEKHA7_000003" "g.16996173_16996175del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.16974626_16974628del" "" "VUS" "" "0000010539" "0" "50" "11" "16996173" "16996174" "del" "0" "00037" "PLEKHA7_000002" "g.16996173_16996174del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.16974626_16974627del" "" "VUS" "" "0000012934" "3" "50" "11" "16826397" "16826397" "subst" "0" "00037" "PLEKHA7_000001" "g.16826397C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.16804850C>T" "" "VUS" "" "0000322066" "0" "50" "11" "16812584" "16812584" "subst" "0" "01804" "PLEKHA7_000004" "g.16812584C>G" "" "" "" "PLEKHA7(NM_175058.4):c.2908G>C (p.(Gly970Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16791037C>G" "" "VUS" "" "0000322067" "0" "50" "11" "16812693" "16812693" "subst" "0" "01804" "PLEKHA7_000005" "g.16812693G>T" "" "" "" "PLEKHA7(NM_175058.4):c.2799C>A (p.(Asp933Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16791146G>T" "" "VUS" "" "0000690995" "0" "30" "11" "16807860" "16807860" "subst" "0" "01943" "PLEKHA7_000006" "g.16807860C>G" "" "" "" "PLEKHA7(NM_001329630.2):c.3432G>C (p.E1144D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690996" "0" "30" "11" "16816193" "16816193" "subst" "1.2213E-5" "01943" "PLEKHA7_000007" "g.16816193G>C" "" "" "" "PLEKHA7(NM_001329630.2):c.2587C>G (p.P863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830186" "3" "50" "11" "16824599" "16824599" "subst" "0.0068683" "00006" "PLEKHA7_000008" "g.16824599C>T" "" "{PMID:Díaz-Gonzalez 2021:33106379}" "" "NM_001329630.1:c.2077G>Ap.Val693Ile" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000862378" "0" "50" "11" "16838690" "16838690" "subst" "2.84817E-5" "01943" "PLEKHA7_000009" "g.16838690G>A" "" "" "" "PLEKHA7(NM_001329630.2):c.1523C>T (p.S508L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998900" "0" "30" "11" "16872832" "16872832" "subst" "4.92296E-5" "01804" "PLEKHA7_000010" "g.16872832C>T" "" "" "" "PLEKHA7(NM_175058.4):c.602G>A (p.(Arg201Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998901" "0" "30" "11" "16876520" "16876520" "subst" "1.21893E-5" "01804" "PLEKHA7_000011" "g.16876520T>G" "" "" "" "PLEKHA7(NM_175058.4):c.438A>C (p.(Lys146Asn))" "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 PLEKHA7 ## Count = 11 "{{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}}" "0000010538" "00000808" "50" "221" "39361" "221" "39363" "c.221+39361_221+39363del" "r.(=)" "p.(=)" "" "0000010539" "00000808" "50" "221" "39362" "221" "39363" "c.221+39362_221+39363del" "r.(=)" "p.(=)" "" "0000012934" "00000808" "50" "2008" "-1555" "2008" "-1555" "c.2008-1555G>A" "r.(=)" "p.(=)" "" "0000322066" "00000808" "50" "2908" "0" "2908" "0" "c.2908G>C" "r.(?)" "p.(Gly970Arg)" "" "0000322067" "00000808" "50" "2799" "0" "2799" "0" "c.2799C>A" "r.(?)" "p.(Asp933Glu)" "" "0000690995" "00000808" "30" "6140" "0" "6140" "0" "c.*2774G>C" "r.(=)" "p.(=)" "" "0000690996" "00000808" "30" "2587" "0" "2587" "0" "c.2587C>G" "r.(?)" "p.(Pro863Ala)" "" "0000830186" "00000808" "50" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Val693Ile)" "" "0000862378" "00000808" "50" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ser508Leu)" "" "0000998900" "00000808" "30" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201Gln)" "" "0000998901" "00000808" "30" "438" "0" "438" "0" "c.438A>C" "r.(?)" "p.(Lys146Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000000210" "0000010538" "0000000210" "0000010539" "0000000210" "0000012934" "0000397951" "0000830186"