### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GABRA4) # 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}}" "GABRA4" "gamma-aminobutyric acid (GABA) A receptor, alpha 4" "4" "p12" "unknown" "NC_000004.11" "UD_132118930381" "" "https://www.LOVD.nl/GABRA4" "" "1" "4078" "2557" "137141" "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/GABRA4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-01-16 15:29:57" "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}}" "00008269" "GABRA4" "transcript variant 1" "001" "NM_000809.3" "" "NP_000800.2" "" "" "" "-983" "10990" "1665" "46996424" "46920917" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "07062" "DDBAE" "developmental delay, behavioral abnormalities, epilepsy" "AD" "" "" "developmental delay, behavioral abnormalities, epilepsy" "" "00006" "2024-01-16 15:28:32" "00006" "2024-01-16 15:28:55" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GABRA4" "07062" ## 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}}" "00445384" "" "" "" "1" "" "04622" "PMID:Vogel 2022:35152403" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "white" "FamPatII1" "00445385" "" "" "" "1" "" "04622" "Sajan 2024, submitted" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "white" "Patient 2" "00446408" "" "" "" "1" "" "04622" "Sajan 2024, submitted" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "" "" "" "White" "Patient 3" "00446409" "" "" "" "1" "" "04622" "Sajan 2024, submitted" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "" "" "" "White" "Patient 4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00445384" "00198" "00445385" "00198" "00446408" "00198" "00446409" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 07062 ## Count = 4 "{{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}}" "0000334620" "00198" "00445384" "04622" "Isolated (sporadic)" "" "neurodevelopmental delay (HP:0012758), delayed speech and language development (HP:0000750), speech apraxia (HP:0011098), impaired executive functioning (HP:0033051), attention deficit hyperactivity disorder (HP:0007018), seizure (HP:0001250), no abnormal brain morphology (-HP:0012443)" "" "02y" "" "" "" "" "" "" "DDBAE" "neurodevelopmental abnormalities" "" "0000334621" "00198" "00445385" "04622" "Isolated (sporadic)" "" "global developmental delay (HP:0001263), intellectual disability (HP:0001249), delayed speech and language development (HP:0000750), impaired social interactions (HP:0000735), aggressive behavior (HP:0000718), abnormal repetitive mannerisms (HP:0000733), autistic behavior (HP:0000729), EEG abnormality (HP:0002353), abnormal facial shape (HP:0001999), brain imaging abnormality (HP:0410263)" "" "03y" "" "" "" "" "" "" "DDBAE" "global developmental delay" "" "0000335631" "00198" "00446408" "04622" "Isolated (sporadic)" "4mo" "Global developmental delay (HP:0001263), developmental regression (HP:0002376), absent speech (HP:0001344), hypotonia (HP:0001252), seizure (HP:0001250), EEG abnormality (HP:0002353), brain imaging abnormality (HP:0410263), focal cortical dysplasia (HP:0032046), chorea (HP:0002072)" "" "02y" "" "" "" "" "" "" "DDBAE" "Neurodevelopmental abnormalities" "" "0000335632" "00198" "00446409" "04622" "Unknown" "3mo" "Global developmental delay (HP:0001263), intellectual disability (HP:0001249), intrauterine growth retardation (HP:0001511), hypoglycemia (HP:0001943), feeding difficulties in infancy (HP:0008872), Marcus Gunn jaw winking synkinesis (HP:0025186), toe syndactyly (HP:0001770), abnormality of the face (HP:0000271), attention deficit hyperactivity disorder (HP:0007018), autism (HP:0000717), abnormal emotion/affect behaviour (HP:0100851), no seizure (-HP:0001250), no EEG abnormality (-HP:0002353), no brain imaging abnormality (-HP:0410263)" "" "" "" "" "" "" "" "" "DDBAE" "Global developmental delay" "" ## 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}}" "0000446955" "00445384" "1" "04622" "04622" "2024-01-11 21:38:31" "00006" "2024-01-16 15:34:39" "SEQ-NG-I" "DNA" "Peripheral blood and oral mucosa" "trio WES" "0000446956" "00445385" "1" "04622" "04622" "2024-01-11 22:05:21" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000447981" "00446408" "1" "04622" "04622" "2024-01-16 23:36:14" "" "" "SEQ-NG-I" "DNA" "Peripheral blood and oral mucosa" "" "0000447982" "00446409" "1" "04622" "04622" "2024-01-17 00:04:55" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" ## 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 = 5 "{{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}}" "0000955394" "0" "90" "4" "46967222" "46967222" "subst" "0" "04622" "GABRA4_000001" "g.46967222G>A" "variant not in gnomADv4" "{PMID:Vogel 2022:35152403}" "" "" "variant in 0.17 (26/155) of sequencing reads" "Somatic" "" "" "0" "" "" "g.46965205G>A" "" "pathogenic (dominant)" "other" "0000955397" "0" "90" "4" "46973177" "46973177" "subst" "0" "04622" "GABRA4_000002" "g.46973177G>A" "variant not in gnomADv4" "Sajan 2024, submitted" "" "" "variant in 63% (36/57) sequencing reads" "De novo" "yes" "" "0" "" "" "g.46971160G>A" "" "pathogenic (dominant)" "other" "0000957361" "0" "90" "4" "46967222" "46967222" "subst" "0" "04622" "GABRA4_000003" "g.46967222G>T" "variant not in gnomADv4" "Sajan 2024, submitted" "" "" "variant in 16% (7/44) of sequencing reads" "Somatic" "yes" "" "0" "" "" "g.46965205G>T" "" "pathogenic" "other" "0000957362" "0" "50" "4" "46976336" "46976336" "subst" "0" "04622" "GABRA4_000004" "g.46976336C>T" "variant not in gnomADv4" "Sajan 2024, submitted" "" "" "variant in 46% (32/69) sequencing reads" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46974319C>T" "" "VUS" "other" "0000994294" "0" "30" "4" "46995386" "46995386" "subst" "0" "01804" "GABRA4_000005" "g.46995386G>A" "" "" "" "GABRA4(NM_000809.3):c.56C>T (p.(Ala19Val))" "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 GABRA4 ## Count = 5 "{{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}}" "0000955394" "00008269" "90" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Ile)" "8" "0000955397" "00008269" "90" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "7" "0000957361" "00008269" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Thr300Asn)" "" "0000957362" "00008269" "50" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Val212Ile)" "" "0000994294" "00008269" "30" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Ala19Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000446955" "0000955394" "0000446956" "0000955397" "0000447981" "0000957361" "0000447982" "0000957362"