### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRKACA) # 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}}" "PRKACA" "protein kinase, cAMP-dependent, catalytic, alpha" "19" "p13.1" "unknown" "NG_029699.1" "UD_132119069767" "" "https://www.LOVD.nl/PRKACA" "" "1" "9380" "5566" "601639" "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/PRKACA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-16 20:41:55" "00006" "2026-02-04 19:18:54" ## 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}}" "00016822" "PRKACA" "transcript variant 1" "001" "NM_002730.3" "" "NP_002721.1" "" "" "" "-200" "2480" "1056" "14228559" "14202500" "" "0000-00-00 00:00:00" "" "" ## 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" "04096" "PPNAD4" "adrenocortical disease, nodular, pigmented, primary, type 4 (PPNAD4, Cushing syndrome)" "AD" "615830" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-16 20:45:40" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRKACA" "04096" ## 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}}" "00314760" "" "" "" "5" "" "00006" "{DOI:Palencia-Campos 2020:10.1016/j.ajhg.2020.09.005}" "2-generation family, affected father, son, 2 daughters and fetus" "M" "" "Egypt" "" "0" "" "" "" "P1" "00314761" "" "" "" "2" "" "00006" "{DOI:Palencia-Campos 2020:10.1016/j.ajhg.2020.09.005}" "2-generation family, affected mother and fetus" "F" "" "Belgium" "" "0" "" "" "" "P2" "00314762" "" "" "" "1" "" "00006" "{DOI:Palencia-Campos 2020:10.1016/j.ajhg.2020.09.005}" "2-generation family, unaffected parents, affected fetus" "" "" "Italy" "" "0" "" "" "" "P3" "00469795" "" "" "" "1" "" "00006" "{PMID:Sithambaram 2024:38357848}, {PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "India" "" "0" "" "" "" "patient;Fam30" "00472036" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00314760" "00198" "00314761" "00198" "00314762" "00198" "00469795" "05517" "00472036" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04096, 05517 ## 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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000238558" "00198" "00314760" "00006" "Isolated (sporadic)" "33y" "height 165 cm (-1.61 SD), weight 97 kg (+1.74 SD), OFC 57 cm (+1.32 SD); no congenital heart abnormalities, but present in affected offspring proband; bilateral postaxial polydactyly hands; bilateral postaxial polydactyly feet; brachydactyly; long trunk; no narrow thorax, but present in affected offspring proband; no upper/lower limb shortening, (arm span 162 cm, but present in affected offspring proband; genu valgum; congenitally missing upper lateral incisors bilateral and lower right lateral incisor, diastema; no nail dysplasia, but present in affected offspring of proband; long face, mid face hypoplasia, short philtrum, overhanging nasal tip; multiple frenula or abnormal gum-lip attachment, multiple upper and lower lingual frenula, hypoplastic maxilla with cross bite; no intellectual disability; 33y-no neoplastic lesions; two offspring with postaxial polydactyly of both hands, short limbs, and congenital heart septal defects; both died early after birth; an 33w-intrauterine fetal death with bilateral postaxial polydactyly and congenital heart disease and a fetus with similar manifestations" "" "" "" "" "" "" "" "" "Weyers acrodental dysostosis" "" "0000238559" "00198" "00314761" "00006" "Familial, autosomal dominant" "42y" "height 139 cm (-5 SD), weight 61,5 kg (+0.46 SD), OFC 52,6 cm (-1.6 SD); no congenital heart abnormalities, but present in affected offspring proband; disproportionate short stature; bilateral postaxial polydactyly hands; no bilateral postaxial polydactyly feet; brachydactyly, fusion hamate and capitate R hand; long trunk in childhood; narrow thorax in childhood; upper/lower limb shortening, arm span 121 cm; genu valgum; conical teeth, early decay; nail dysplasia; notched upper lip; multiple oral frenula at lower lip at birth; no intellectual disability; 42y-no neoplastic lesions; affected fetus with short limbs, narrow thorax, postaxial polydactyly of both hands, complete atrioventricular septal defect" "" "" "" "" "" "" "" "" "Ellis-van Creveld syndrome" "" "0000238560" "00198" "00314762" "00006" "Isolated (sporadic)" "<0d" "23w fetus length 27 cm (<3%), weight 467 g (25%-50%); congenital atrioventricular septal defect, myocardial hypertrophy; bilateral postaxial polydactyly hands; unilateral postaxial polydactyly feet, hexadactyly left foot; narrow thorax, short ribs; micromelia; fetus presented with bicornuate and didelphys uterus, lungs with immature parenchyma at canalicular stage" "" "" "" "" "" "" "" "" "Ellis-van Creveld syndrome" "" "0000354940" "05517" "00469795" "00006" "Isolated (sporadic)" "14y" "see paper; ..., short stature, knock knees; 6y-deformity both limbs progressed gradually; abnormal gait, no pain" "" "" "" "" "" "" "" "CAFD1" "skeletal dysplasia" "" "0000356845" "00198" "00472036" "03544" "Isolated (sporadic)" "" "HP:0010442, HP:0001674, HP:0001249" "" "" "" "" "" "" "" "CAFD1" "" "" ## 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}}" "0000315934" "00314760" "1" "00006" "00006" "2020-10-18 10:14:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315935" "00314761" "1" "00006" "00006" "2020-10-18 10:14:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315936" "00314762" "1" "00006" "00006" "2020-10-18 10:14:51" "" "" "SEQ" "DNA" "" "WES" "0000471463" "00469795" "1" "00006" "00006" "2025-11-20 12:33:13" "00006" "2025-11-20 14:02:35" "SEQ;SEQ-NG" "DNA" "" "trio WES, WGS" "0000473706" "00472036" "1" "03544" "03544" "2026-01-06 09:02:11" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000315934" "PRKACA" "0000315935" "PRKACA" "0000315936" "PRKACA" ## 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 = 20 "{{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}}" "0000326263" "0" "50" "19" "14199555" "14199555" "subst" "0" "01804" "SAMD1_000001" "g.14199555C>T" "" "" "" "SAMD1(NM_138352.1):c.1068G>A (p.(Trp356Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14088743C>T" "" "VUS" "" "0000326264" "0" "50" "19" "14200871" "14200876" "del" "0" "01804" "SAMD1_000002" "g.14200871_14200876del" "" "" "" "SAMD1(NM_138352.1):c.336+29_336+34del (p.(Pro122_Pro123del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14090059_14090064del" "" "VUS" "" "0000692706" "0" "50" "19" "14203989" "14203989" "subst" "0" "01943" "PRKACA_000004" "g.14203989A>G" "" "" "" "PRKACA(NM_001304349.1):c.1219T>C (p.Y407H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698042" "0" "90" "19" "14211648" "14211648" "subst" "0" "00006" "PRKACA_000005" "g.14211648C>T" "" "{DOI:Palencia-Campos 2020:10.1016/j.ajhg.2020.09.005}" "" "" "mosaic, 811/2858 reads" "Somatic" "" "" "0" "" "" "g.14100836C>T" "" "pathogenic (dominant)" "" "0000698043" "0" "90" "19" "14211648" "14211648" "subst" "0" "00006" "PRKACA_000005" "g.14211648C>T" "" "{DOI:Palencia-Campos 2020:10.1016/j.ajhg.2020.09.005}" "" "" "inherited, 41/74 reads" "Germline" "" "" "0" "" "" "g.14100836C>T" "" "pathogenic (dominant)" "" "0000698044" "0" "90" "19" "14211648" "14211648" "subst" "0" "00006" "PRKACA_000005" "g.14211648C>T" "" "{DOI:Palencia-Campos 2020:10.1016/j.ajhg.2020.09.005}" "" "" "" "De novo" "" "" "0" "" "" "g.14100836C>T" "" "pathogenic (dominant)" "" "0000915144" "0" "90" "19" "14211648" "14211648" "subst" "0" "02327" "PRKACA_000005" "g.14211648C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983243" "0" "50" "19" "14211653" "14211653" "subst" "1.62476E-5" "01804" "PRKACA_000006" "g.14211653C>T" "" "" "" "PRKACA(NM_002730.4):c.404G>A (p.(Arg135Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983244" "0" "30" "19" "14218639" "14218639" "subst" "0" "01804" "PRKACA_000007" "g.14218639G>A" "" "" "" "PRKACA(NM_001304349.2):c.158C>T (p.(Pro53Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004419" "0" "50" "19" "14208459" "14208459" "subst" "8.22287E-6" "01804" "PRKACA_000008" "g.14208459C>T" "" "" "" "PRKACA(NM_002730.3):c.574G>A (p.(Val192Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004420" "0" "50" "19" "14208698" "14208698" "subst" "0" "01804" "PRKACA_000009" "g.14208698G>T" "" "" "" "PRKACA(NM_002730.3):c.424C>A (p.(Pro142Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042674" "0" "50" "19" "14208177" "14208177" "subst" "0" "01804" "PRKACA_000010" "g.14208177C>G" "" "" "" "PRKACA(NM_002730.4):c.761G>C (p.(Gly254Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042675" "0" "30" "19" "14211632" "14211632" "subst" "0.000166634" "01804" "PRKACA_000011" "g.14211632G>A" "" "" "" "PRKACA(NM_002730.4):c.419+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042676" "0" "30" "19" "14218231" "14218231" "subst" "0" "01804" "PRKACA_000012" "g.14218231A>G" "" "" "" "PRKACA(NM_002730.4):c.47-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042677" "0" "50" "19" "14218712" "14218712" "subst" "0" "01804" "PRKACA_000013" "g.14218712C>T" "" "" "" "PRKACA(NM_001304349.2):c.85G>A (p.(Asp29Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042678" "0" "30" "19" "14218772" "14218772" "subst" "0" "01804" "PRKACA_000014" "g.14218772C>T" "" "" "" "PRKACA(NM_001304349.2):c.25G>A (p.(Ala9Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056519" "0" "50" "19" "14218630" "14218630" "subst" "0" "01804" "PRKACA_000015" "g.14218630C>T" "" "" "" "PRKACA(NM_001304349.2):c.167G>A (p.(Arg56Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059611" "0" "70" "19" "14211648" "14211648" "subst" "0" "00006" "PRKACA_000005" "g.14211648C>T" "" "{PMID:Sithambaram 2024:38357848}, {PMID:Jacob 2025:39706863}" "" "(Gly177Arg)" "" "De novo" "" "" "0" "" "" "g.14100836C>T" "SCV002507149.1" "likely pathogenic (dominant)" "" "0001062579" "0" "90" "19" "14208432" "14208432" "subst" "0" "03544" "PRKACA_000016" "g.14208432C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.14097620C>T" "{CV:3368216}" "pathogenic" "ACMG" "0001067131" "0" "50" "19" "14211321" "14211321" "del" "0" "01804" "PRKACA_000017" "g.14211321del" "" "" "" "PRKACA(NM_002730.4):c.419+318del" "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 PRKACA ## Count = 20 "{{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}}" "0000326263" "00016822" "50" "5425" "0" "5425" "0" "c.*4369G>A" "r.(=)" "p.(=)" "" "0000326264" "00016822" "50" "4112" "0" "4117" "0" "c.*3056_*3061del" "r.(=)" "p.(=)" "" "0000692706" "00016822" "50" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Tyr331His)" "" "0000698042" "00016822" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Gly137Arg)" "" "0000698043" "00016822" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Gly137Arg)" "" "0000698044" "00016822" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Gly137Arg)" "" "0000915144" "00016822" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Gly137Arg)" "" "0000983243" "00016822" "50" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Arg135Gln)" "" "0000983244" "00016822" "30" "47" "-418" "47" "-418" "c.47-418C>T" "r.(=)" "p.(=)" "" "0001004419" "00016822" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Val192Met)" "" "0001004420" "00016822" "50" "424" "0" "424" "0" "c.424C>A" "r.(?)" "p.(Pro142Thr)" "" "0001042674" "00016822" "50" "761" "0" "761" "0" "c.761G>C" "r.(?)" "p.(Gly254Ala)" "" "0001042675" "00016822" "30" "419" "6" "419" "6" "c.419+6C>T" "r.(=)" "p.(=)" "" "0001042676" "00016822" "30" "47" "-10" "47" "-10" "c.47-10T>C" "r.(=)" "p.(=)" "" "0001042677" "00016822" "50" "47" "-491" "47" "-491" "c.47-491G>A" "r.(=)" "p.(=)" "" "0001042678" "00016822" "30" "47" "-551" "47" "-551" "c.47-551G>A" "r.(=)" "p.(=)" "" "0001056519" "00016822" "50" "47" "-409" "47" "-409" "c.47-409G>A" "r.(=)" "p.(=)" "" "0001059611" "00016822" "70" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Gly137Arg)" "" "0001062579" "00016822" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Ser)" "7" "0001067131" "00016822" "50" "419" "318" "419" "318" "c.419+318del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000315934" "0000698042" "0000315935" "0000698043" "0000315936" "0000698044" "0000471463" "0001059611" "0000473706" "0001062579"