### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NAE1) # 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}}" "NAE1" "NEDD8 activating enzyme E1 subunit 1" "16" "q22" "unknown" "NC_000016.9" "UD_132378524846" "" "https://www.LOVD.nl/NAE1" "" "1" "621" "8883" "603385" "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/NAE1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-01-10 15:07:38" "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}}" "00014255" "NAE1" "transcript variant 1" "002" "NM_003905.3" "" "NP_003896.1" "" "" "" "-77" "1736" "1605" "66864879" "66836781" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "06996" "NDD-NAE1" "NDD-NAE1" "AR" "" "" "short stature; facial abnormalities; wide nasal bridge; long philtrum; anteverted nares; large ears; epicanthal folds; broad philtrum; lymphopenia; recurrent infections; ischiopubic hypoplasia; neurological abnormalities; seizures; 1y-onset seizures; seizure triggered by fever; psychomotor development stagnates; mental decline; learning disabilities; MRI global brain atrophy; muscle weakness; dysgenesis hippocampus" "" "00006" "2023-01-10 16:05:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NAE1" "00139" "NAE1" "06996" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00428772" "" "" "" "1" "" "00006" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/" "F" "no" "Netherlands" "" "0" "" "" "" "Pat1" "00428773" "" "" "" "1" "" "00006" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/" "M" "" "Netherlands" "" "0" "" "" "" "Pat2" "00428774" "" "" "" "1" "" "00006" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/" "M" "yes" "United States" "" "0" "" "" "" "Pat3" "00428775" "" "" "" "1" "" "00006" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/" "F" "no" "United States" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00428772" "00139" "00428773" "00139" "00428774" "00139" "00428775" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 06996 ## Count = 4 "{{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}}" "0000319656" "00139" "00428772" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., birth 40w, weight 2,615g (-1.8 SDS); 8y-height 116cm (-2.53 SDS); 8y-OFC 51cm (-0.47 SDS); no cleft palate; asymmetrical palate; ventricular septal defect, coarctation aorta; severe developmental delay; seizures; hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; joint dislocation; joint hyperextensibility; no joint stiffness; resistant to sunburns; hepatomegaly at infancy; splenomegaly at infancy; leukopenia; AST/ALT increase during infections; delayed closure of ischiopubic rami; recurrent infections respiratory, urinary tract, skin; hypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); infection associated lymphopenia (HP:0410256); reduced proportion of naive T cells (HP:0031397); increased lymphocyte apoptosis (HP:0030887); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); abnormal B cell subset distribution (HP:0025539); recurrent joint dislocation (HP:0031869); developmental stagnation (HP:0007281); large fleshy ears (HP:0002265); hypoplastic pubic bone (HP:0003173); abnormal B cell count (HP:0010975); facial erythema (HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); decreased circulating total IgM (HP:0002850); aplasia/hypoplasia involving the pelvis (HP:0009103); abnormal T cell subset distribution (HP:0025540); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839); lymphopenia (HP:0001888)" "" "" "" "" "" "" "" "" "intellectual disability" "0000319657" "00139" "00428773" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., birth 36w, weight 2,767g (0.05 SDS); 13y-height 150cm (-1.5 SDS); 13y-OFC 54cm (-0.59 SDS); cleft palate; asymmetrical palate; no heart defects; moderate developmental delay; no seizures; no hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; no enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; joint dislocation; joint hyperextensibility; no joint stiffness; resistant to sunburns; no hepatomegaly at infancy; splenomegaly at infancy; leukopenia; no AST/ALT increase; delayed closure of ischiopubic rami; recurrent infections respiratory, skin; hypoplastic schiopubic rami (HP:0008822); no developmental stagnation at onset seizures (-HP:0006834); infection associated lymphopenia (HP:0410256); reduced proportion of naive T cells (HP:0031397); increased lymphocyte apoptosis (HP:0030887); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); abnormal B cell subset distribution (HP:0025539); recurrent joint dislocation (HP:0031869); developmental stagnation (HP:0007281); large fleshy ears (HP:0002265); hypoplastic pubic bone (HP:0003173); abnormal B cell count (HP:0010975); no facial erythema (-HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); decreased circulating total IgM (HP:0002850); aplasia/hypoplasia involving the pelvis (HP:0009103); abnormal T cell subset distribution (HP:0025540); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839); lymphopenia (HP:0001888)" "" "" "" "" "" "" "" "" "intellectual disability" "0000319658" "00139" "00428774" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., birth 37w, weight 2,140g (-1.6 SDS); 2y5m-height 91cm (-1 SDS); 2y5m-OFC 47.3cm (-1.5 SDS); no cleft palate; symmetrical palate; no heart defects; moderate developmental delay; seizures; hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; no joint dislocation; no joint hyperextensibility; no joint stiffness; resistant to sunburns; hepatomegaly at infancy; splenomegaly at infancy; no leukopenia; no AST/ALT increase; recurrent infections respiratory; hypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); no infection associated lymphopenia (-HP:0410256); transient lymphopenia (HP:0410255); decreased proportion memory B cells (HP:0030374); developmental stagnation (HP:0007281); no large fleshy ears (-HP:0002265); hypoplastic pubic bone (HP:0003173); no facial erythema (-HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); aplasia/hypoplasia involving the pelvis (HP:0009103); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839)" "" "" "" "" "" "" "" "" "intellectual disability" "0000319659" "00139" "00428775" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., birth 40w, weight 2,300g (-2.48 SDS); 6y6m-height 97cm (-5.9 SDS); 6y6m-OFC 48.7cm (-1.73 SDS); no cleft palate; no heart defects; severe developmental delay; seizures; hypotonia during infancy; underdeveloped corpus callosum; decreased myelination; enlarged ventricles; loss of milestones after infections; neurodegeneration; decreased bone density; no joint dislocation; joint hyperextensibility; joint stiffness; no resistant to sunburns; no hepatomegaly at infancy; no splenomegaly at infancy; leukopenia; no AST/ALT increase; recurrent infections respiratory, urinary tract; \r\nhypoplastic schiopubic rami (HP:0008822); developmental stagnation at onset seizures (HP:0006834); infection associated lymphopenia (HP:0410256); no transient lymphopenia (-HP:0410255); developmental stagnation (HP:0007281); large fleshy ears (HP:0002265); hypoplastic pubic bone (HP:0003173); no facial erythema (-HP:0001041); narrow palpebral fissure (HP:0045025); almond-shaped palpebral fissure (HP:0007874); progressive neurologic deterioration (HP:0002344); abnormal shape palpebral fissure (HP:0200005); aplasia/hypoplasia involving the pelvis (HP:0009103); neurodegeneration (HP:0002180); abnormal T cell count (HP:0011839); short stature (-5.0 SD); no microcephaly; facial abnormalities; wide nasal bridge; long philtrum; anteverted nares; large ears; epicanthal folds; narrow palpebral fissures; thick lower lip vermilion; broad philtrum; lymphopenia; recurrent infections; ischiopubic hypoplasia; neurological abnormalities; seizures; seizure triggered by fever; psychomotor development; stagnates.; mental decline; no behavioral problems; learning disabilities; global brain atrophy on mri; no microcephaly; limited knee extension; dysgenesis hippocampus" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000430185" "00428772" "1" "00006" "00006" "2023-01-10 16:33:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000430186" "00428773" "1" "00006" "00006" "2023-01-10 16:33:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000430187" "00428774" "1" "00006" "00006" "2023-01-10 16:33:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000430188" "00428775" "1" "00006" "00006" "2023-01-10 16:33:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 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}}" "0000324817" "0" "50" "16" "66857499" "66857499" "subst" "1.3669E-5" "01804" "NAE1_000001" "g.66857499C>T" "" "" "" "NAE1(NM_001018159.1):c.236G>A (p.(Arg79Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66823596C>T" "" "VUS" "" "0000343456" "0" "70" "16" "66857499" "66857499" "subst" "1.3669E-5" "02327" "NAE1_000001" "g.66857499C>T" "" "" "" "NAE1(NM_001018159.1):c.236G>A (p.(Arg79Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66823596C>T" "" "likely pathogenic" "" "0000909981" "1" "70" "16" "66860590" "66860590" "subst" "4.06382E-6" "00006" "NAE1_000004" "g.66860590C>G" "" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.66826687C>G" "" "likely pathogenic (recessive)" "" "0000909982" "3" "70" "16" "66857499" "66857499" "subst" "1.3669E-5" "00006" "NAE1_000001" "g.66857499C>T" "" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.66823596C>T" "" "likely pathogenic (recessive)" "" "0000909983" "3" "70" "16" "66842465" "66842465" "subst" "0" "00006" "NAE1_000002" "g.66842465C>T" "" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.66808562C>T" "" "likely pathogenic (recessive)" "" "0000909984" "3" "70" "16" "66847708" "66847708" "subst" "2.845E-5" "00006" "NAE1_000003" "g.66847708G>C" "" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.66813805G>C" "" "likely pathogenic (recessive)" "" "0000909985" "2" "70" "16" "66857499" "66857499" "subst" "1.3669E-5" "00006" "NAE1_000001" "g.66857499C>T" "" "{PMID:Muffels 2023:36608681}, {DOI:Muffels 2023:10.1016/j.ajhg.2022.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.66823596C>T" "" "likely pathogenic (recessive)" "" "0000981987" "0" "30" "16" "66851321" "66851321" "subst" "0.000143652" "01804" "NAE1_000005" "g.66851321G>T" "" "" "" "NAE1(NM_003905.4):c.684+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041243" "0" "50" "16" "66847525" "66847525" "subst" "8.12466E-6" "01804" "NAE1_000006" "g.66847525G>A" "" "" "" "NAE1(NM_003905.4):c.976C>T (p.(Arg326*))" "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 NAE1 ## 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}}" "0000324817" "00014255" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85Gln)" "" "0000343456" "00014255" "70" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85Gln)" "" "0000909981" "00014255" "70" "147" "0" "147" "0" "c.147G>C" "r.(?)" "p.(Leu49Phe)" "" "0000909982" "00014255" "70" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85Gln)" "" "0000909983" "00014255" "70" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Arg430Gln)" "" "0000909984" "00014255" "70" "882" "0" "882" "0" "c.882C>G" "r.(?)" "p.(Cys294Trp)" "" "0000909985" "00014255" "70" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85Gln)" "" "0000981987" "00014255" "30" "684" "7" "684" "7" "c.684+7C>A" "r.(=)" "p.(=)" "" "0001041243" "00014255" "50" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000430185" "0000909981" "0000430185" "0000909985" "0000430186" "0000909982" "0000430187" "0000909983" "0000430188" "0000909984"