### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FASTKD5)
# 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}}"
"FASTKD5"	"FAST kinase domains 5"	"20"	"p13"	"unknown"	"NC_000020.10"	"UD_136086998997"	""	"https://www.LOVD.nl/FASTKD5"	""	"1"	"25790"	"60493"	"614272"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2025-07-06 15:17:53"	"00006"	"2025-07-06 15:31:08"


## 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}}"
"00007747"	"FASTKD5"	"FAST kinase domains 5"	"001"	"NM_021826.4"	""	"NP_068598.1"	""	""	""	"-311"	"2552"	"2295"	"3140532"	"3127165"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00038"	"LS"	"Leigh syndrome (LS)"	"AR;Mi"	"256000"	""	""	""	"00008"	"2012-08-30 16:26:44"	"00006"	"2025-01-31 09:48:07"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"FASTKD5"	"00038"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00466005"	""	""	""	"1"	""	"00006"	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00466006"	""	""	""	"1"	""	"00006"	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat2"
"00466007"	""	""	""	"1"	""	"00006"	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"Pat3"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00466005"	"00038"
"00466006"	"00038"
"00466007"	"00038"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00038
## Count = 3
"{{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}}"
"0000351390"	"00038"	"00466005"	"00006"	"Familial, autosomal recessive"	"14m15d"	"see paper; ..., 14m15d-failure to thrive, microcephaly (OFC 41cm, Z-4.7), hypotonia, gross motor skills <4m skill level), fine motor skills 6m level), no expressive language skills attendance to voices, nystagmus, esotropi, no retinal pathology"	""	""	"failure to thrive"	""	""	""	""	""	"Leigh syndrome"
"0000351391"	"00038"	"00466006"	"00006"	"Familial, autosomal recessive"	"27y"	"see paper; ..., fever unknown origin; sub-acute onset cognitive-motor slowing, lethargy, hyperphagia, difficulty in ambulation, oculomotor alterations (mild convergent strabismus left eye with mild abduction deficit, vertical nystagmus primary position, horizontal nystagmus in bilateral gaze settings, complete deficit ocular pursuit movements vertical plane); MRI-brain intra-axial lesions midbrain, tegmentum, and tectal plate, with extension along medial longitudinal fasciculus, with modest mass effect, linear enhancement, increased perfusion indices; lactic acid peak on spectroscopy"	""	""	"fever unknwn origin"	""	""	""	""	""	"Leigh syndrome"
"0000351392"	"00038"	"00466007"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., born small for gestational age; pregnancy preeclampsia; intensive care nursery for poor feeding for 3w; eat orally, failure to thrive, 11m-gastrostomy tube; global developmental delay without regression, most notably in gross motor skills, 2y-walk; expressive speech, 16m-first babbling, 21m-sign 20–30 word; exercise intolerance; dysmorphic facial features (midfacial hypoplasia, prominent cheeks, micro/retrognathia, epicanthus, down-slanting palpebral fissures, smooth philtrum, thin upper lip; intermittent mild lactatemia"	""	""	"born small for gestational age"	""	""	""	""	""	"Leigh syndrome"


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000467656"	"00466005"	"1"	"00006"	"00006"	"2025-07-06 15:31:07"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000467657"	"00466006"	"1"	"00006"	"00006"	"2025-07-06 15:31:07"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000467658"	"00466007"	"1"	"00006"	"00006"	"2025-07-06 15:31:07"	""	""	"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 = 8
"{{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}}"
"0000287118"	"0"	"30"	"20"	"3128607"	"3128607"	"subst"	"2.43898E-5"	"01943"	"FASTKD5_000001"	"g.3128607G>A"	""	""	""	"FASTKD5(NM_021826.5):c.1110C>T (p.H370=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.3147961G>A"	""	"likely benign"	""
"0000569378"	"0"	"30"	"20"	"3145191"	"3145191"	"subst"	"0.000139179"	"01943"	"LZTS3_000003"	"g.3145191C>G"	""	""	""	"LZTS3(NM_001282533.1):c.1793G>C (p.G598A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.3164545C>G"	""	"likely benign"	""
"0001045546"	"11"	"90"	"20"	"3128007"	"3128007"	"dup"	"0"	"00006"	"FASTKD5_000004"	"g.3128007dup"	""	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.3147361dup"	""	"likely pathogenic (recessive)"	""
"0001045547"	"11"	"90"	"20"	"3128507"	"3128507"	"subst"	"3.25203E-5"	"00006"	"FASTKD5_000005"	"g.3128507G>A"	""	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.3147861G>A"	""	"likely pathogenic (recessive)"	""
"0001045548"	"1"	"70"	"20"	"3127688"	"3127689"	"del"	"8.12764E-6"	"00006"	"FASTKD5_000002"	"g.3127688_3127689del"	""	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.3147042_3147043del"	""	"likely pathogenic (recessive)"	""
"0001045549"	"21"	"70"	"20"	"3127816"	"3127816"	"subst"	"0"	"00006"	"FASTKD5_000003"	"g.3127816A>G"	""	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.3147170A>G"	""	"likely pathogenic (recessive)"	""
"0001045550"	"21"	"90"	"20"	"3129343"	"3129343"	"subst"	"0"	"00006"	"FASTKD5_000006"	"g.3129343T>C"	""	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.3148697T>C"	""	"likely pathogenic (recessive)"	""
"0001045551"	"2"	"90"	"20"	"3129343"	"3129343"	"subst"	"0"	"00006"	"FASTKD5_000006"	"g.3129343T>C"	""	"{PMID:Antonicka 2025:40499538}, {DOI:Antonicka 2025:10.1016/j.ajhg.2025.05.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.3148697T>C"	""	"likely pathogenic (recessive)"	""


## 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 FASTKD5
## Count = 8
"{{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}}"
"0000287118"	"00007747"	"30"	"1110"	"0"	"1110"	"0"	"c.1110C>T"	"r.(?)"	"p.(His370=)"	""
"0000569378"	"00007747"	"30"	"-4970"	"0"	"-4970"	"0"	"c.-4970G>C"	"r.(?)"	"p.(=)"	""
"0001045546"	"00007747"	"90"	"1716"	"0"	"1716"	"0"	"c.1716dup"	"r.(?)"	"p.(Pro573AlafsTer17)"	""
"0001045547"	"00007747"	"90"	"1210"	"0"	"1210"	"0"	"c.1210C>T"	"r.(?)"	"p.(Arg404Cys)"	""
"0001045548"	"00007747"	"70"	"2028"	"0"	"2029"	"0"	"c.2028_2029del"	"r.(?)"	"p.(Ala678HisfsTer79)"	""
"0001045549"	"00007747"	"70"	"1901"	"0"	"1901"	"0"	"c.1901T>C"	"r.(?)"	"p.(Leu634Pro)"	""
"0001045550"	"00007747"	"90"	"374"	"0"	"374"	"0"	"c.374A>G"	"r.(?)"	"p.(Tyr125Cys)"	""
"0001045551"	"00007747"	"90"	"374"	"0"	"374"	"0"	"c.374A>G"	"r.(?)"	"p.(Tyr125Cys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000467656"	"0001045546"
"0000467656"	"0001045549"
"0000467657"	"0001045547"
"0000467657"	"0001045550"
"0000467658"	"0001045548"
"0000467658"	"0001045551"