### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TMEM48)
# 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}}"
"TMEM48" "transmembrane protein 48" "1" "p32.3" "unknown" "NC_000001.10" "UD_132455966701" "" "https://www.LOVD.nl/NDC1" "" "1" "25525" "55706" "610115" "1" "1" "1" "1" "NOTE: gene name changed from TMEM48 to NDC1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from TMEM48 to NDC1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-09-28 14:15:47" "00006" "2025-01-30 14:36:06"
## 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}}"
"00021290" "TMEM48" "transcript variant 1" "003" "NM_018087.4" "" "NP_060557.3" "" "" "" "-291" "4535" "2025" "54304225" "54231133" "" "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}}"
"00969" "AAAS" "achalasia-addisonianism-alacrimia syndrome" "AR" "231550" "cerebellum" "adrenal insufficiency, dysphagia/achalasia, no hyporeflexia, developmental delay, alacrima" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-28 14:40:08"
"07104" "AAAS2" "achalasia-addisonianism-alacrimia syndrome, type 2" "AR" "" "" "no adrenal insufficiency, dysphagia/achalasia, polyneuropathy, hyporeflexia, developmental delay, alacrima, no postural hypotension, no sexual dysfunction" "" "00006" "2024-09-28 14:39:38" "00006" "2024-09-28 14:41:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"TMEM48" "00969"
"TMEM48" "07104"
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00454836" "" "" "" "2" "" "00006" "{PMID:Smits 2024:39003500}" "2-generation family, 2 affected (sister/brother), unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam1PatII1"
"00454837" "" "" "00454836" "1" "" "00006" "{PMID:Smits 2024:39003500}" "brother" "M" "yes" "" "" "0" "" "" "" "Fam1PatII2"
"00454838" "" "" "" "2" "" "00006" "{PMID:Smits 2024:39003500}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam2PatII1"
"00454839" "" "" "00454838" "1" "" "00006" "{PMID:Smits 2024:39003500}" "sister" "F" "yes" "" "" "0" "" "" "" "Fam2PatII2"
"00454840" "" "" "" "2" "" "00006" "{PMID:Smits 2024:39003500}" "3-generation family, 2 affected (brother/sister), unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam3PatIV1"
"00454841" "" "" "00454840" "1" "" "00006" "{PMID:Smits 2024:39003500}" "sister" "F" "yes" "" "" "0" "" "" "" "Fam3PatIV2"
"00454842" "" "" "" "1" "" "00006" "{PMID:Smits 2024:39003500}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam4PatII1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00454836" "00969"
"00454837" "00969"
"00454838" "00969"
"00454839" "00969"
"00454840" "00969"
"00454841" "00969"
"00454842" "00969"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00969, 07104
## Count = 7
"{{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}}"
"0000343446" "00969" "00454836" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., borderline intellectual disability; motor delay; EMG polyneuropathy; alacrima; dysphagia, recurrent choking; facial weakness; hypotonia; tongue fasciculations; no growth delay; no epilepsy" "" "" "" "" "" "" "" "AAAS2" "triple A syndrome"
"0000343447" "00969" "00454837" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., borderline intellectual disability; motor delay; EMG polyneuropathy; alacrima; suspect achalasia; facial weakness; hypotonia; tongue fasciculations; no growth delay; no epilepsy" "" "" "" "" "" "" "" "AAAS2" "triple A syndrome"
"0000343448" "00969" "00454838" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., mild intellectual disability; motor impairment; EMG polyneuropathy; alacrima; no dysphagia/achalasia; facial weakness; tongue fasciculations; growth delay; no epilepsy" "" "" "" "" "" "" "" "AAAS2" "triple A syndrome"
"0000343449" "00969" "00454839" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., no intellectual disability; motor impairment; polyneuropathy; alacrima; no dysphagia/achalasia; tongue fasciculations; growth delay; no epilepsy" "" "" "" "" "" "" "" "AAAS2" "triple A syndrome"
"0000343450" "00969" "00454840" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., moderate intellectual disability; motor impairment; polyneuropathy; achalasia; facial weakness; no tongue fasciculations; growth delay; no epilepsy" "" "" "" "" "" "" "" "AAAS2" "triple A syndrome"
"0000343451" "00969" "00454841" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., moderate intellectual disability; motor impairment; polyneuropathy; alacrima; achalasia; facial weakness; hypotonia; no tongue fasciculations; growth delay; epilepsy" "" "" "" "" "" "" "" "AAAS2" "triple A syndrome"
"0000343452" "00969" "00454842" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., severe intellectual disability; severe motor impairment; no polyneuropathy; no alacrima; dysphagia; hypotonia; no tongue fasciculations; no growth delay; epilepsy" "" "" "" "" "" "" "" "AAAS2" "triple A syndrome"
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000456447" "00454836" "1" "00006" "00006" "2024-09-28 14:45:24" "" "" "arraySNP;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000456448" "00454837" "1" "00006" "00006" "2024-09-28 14:45:24" "" "" "arraySNP;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000456449" "00454838" "1" "00006" "00006" "2024-09-28 14:45:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000456450" "00454839" "1" "00006" "00006" "2024-09-28 14:45:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000456451" "00454840" "1" "00006" "00006" "2024-09-28 14:45:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000456452" "00454841" "1" "00006" "00006" "2024-09-28 14:45:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000456453" "00454842" "1" "00006" "00006" "2024-09-28 14:45:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "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}}"
"0001010132" "3" "90" "1" "54272211" "54272211" "subst" "0" "00006" "TMEM48_000003" "g.54272211C>T" "" "{PMID:Smits 2024:39003500}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53806538C>T" "" "pathogenic (recessive)" ""
"0001010133" "3" "90" "1" "54272211" "54272211" "subst" "0" "00006" "TMEM48_000003" "g.54272211C>T" "" "{PMID:Smits 2024:39003500}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53806538C>T" "" "pathogenic (recessive)" ""
"0001010134" "3" "90" "1" "54272211" "54272211" "subst" "0" "00006" "TMEM48_000003" "g.54272211C>T" "" "{PMID:Smits 2024:39003500}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53806538C>T" "" "pathogenic (recessive)" ""
"0001010135" "3" "90" "1" "54272211" "54272211" "subst" "0" "00006" "TMEM48_000003" "g.54272211C>T" "" "{PMID:Smits 2024:39003500}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53806538C>T" "" "pathogenic (recessive)" ""
"0001010136" "3" "70" "1" "54252925" "54252925" "subst" "0" "00006" "TMEM48_000002" "g.54252925G>A" "" "{PMID:Smits 2024:39003500}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53787252G>A" "" "likely pathogenic (recessive)" ""
"0001010137" "3" "70" "1" "54252925" "54252925" "subst" "0" "00006" "TMEM48_000002" "g.54252925G>A" "" "{PMID:Smits 2024:39003500}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53787252G>A" "" "likely pathogenic (recessive)" ""
"0001010138" "3" "70" "1" "54252911" "54252911" "subst" "0" "00006" "TMEM48_000001" "g.54252911C>T" "" "{PMID:Smits 2024:39003500}" "" "" "" "Germline" "" "" "0" "" "" "g.53787238C>T" "" "likely pathogenic (recessive)" ""
"0001022237" "0" "50" "1" "54272211" "54272211" "subst" "0" "04796" "TMEM48_000003" "g.54272211C>T" "" "" "" "" "in vitro analysis 293T cells mini-gene exon trapping assay: effect on RNA exon skipping" "CLASSIFICATION record" "" "" "0" "" "" "g.53806538C>T" "" "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 TMEM48
## 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}}"
"0001010132" "00021290" "70" "892" "-21" "892" "-21" "c.892-21G>A" "r.[892_984del|0.6,=]" "p.[Ala298_Lys328del,=]" "8i"
"0001010133" "00021290" "90" "892" "-21" "892" "-21" "c.892-21G>A" "r.[892_984del|0.6,=]" "p.[Ala298_Lys328del,=]" "8i"
"0001010134" "00021290" "90" "892" "-21" "892" "-21" "c.892-21G>A" "r.[(892_984del,=)]" "p.[(Ala298_Lys328del,=)]" "8i"
"0001010135" "00021290" "90" "892" "-21" "892" "-21" "c.892-21G>A" "r.[(892_984del,=)]" "p.[(Ala298_Lys328del,=)]" "8i"
"0001010136" "00021290" "70" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Ser569Leu)" ""
"0001010137" "00021290" "70" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Ser569Leu)" ""
"0001010138" "00021290" "70" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Ala574Thr)" ""
"0001022237" "00021290" "50" "892" "-21" "892" "-21" "c.892-21G>A" "r.[892_984del,=]" "p.Ala298_Lys328del" "8i"
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000456447" "0001010132"
"0000456448" "0001010133"
"0000456449" "0001010134"
"0000456450" "0001010135"
"0000456451" "0001010136"
"0000456452" "0001010137"
"0000456453" "0001010138"