MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:617
Name:AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
Definition:
Alternative IDs:DO:DOID:0060355
ParentIDs:MESH:D000690|MESH:D057180
TreeNumbers:C10.228.140.380.266.299/616208 |C10.228.854.139/616208 |C10.574.562.250/616208 |C10.574.950.050/616208 |C10.574.950.300.299/616208 |C10.668.467.250/616208 |C18.452.845.800.050/616208 |C18.452.845.800.300.299/616208 |F03.615.400.380.299/616208
Synonyms:ALS22
Slim Mappings:Mental disorder|Metabolic disease|Nervous system disease
Reference: MedGen: 616208
MeSH: 616208
OMIM: 616208;
MSeqDR LSDB:  
Genes: TUBA4A;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002145Frontotemporal dementiaHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)7277TUBA4AUncertain significance-1RCV003148361|RCV003317661; NMONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803|MedGen:CN1693742220115178220115178-
NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)7277TUBA4APathogenic730880027RCV000157036; NMONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:80322201152012201152012:g.220115201C>TClinGen:CA185901,OMIM:191110.0003C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia;
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)7277TUBA4APathogenic368743618RCV000157038; NMONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:80322201152742201152742:g.220115274C>TClinGen:CA185904,UniProtKB:P68366#VAR_072718,OMIM:191110.0005C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia;
NM_006000.3(TUBA4A):c.1025A>G (p.Gln342Arg)7277TUBA4AUncertain significance-1RCV003139184; NMONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:8032220115396220115396NC_000002.11:g.220115396T>C-
NM_006000.3(TUBA4A):c.959G>A (p.Arg320His)7277TUBA4APathogenic730880026RCV000157035; NMONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:80322201154622201154622:g.220115462C>TClinGen:CA185900,UniProtKB:P68366#VAR_072717,OMIM:191110.0002C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia;
NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)7277TUBA4ALikely pathogenic730880025RCV000157034|RCV003227679; NMONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803|MedGen:C366190022201154632201154632:g.220115463G>AClinGen:CA185899,UniProtKB:P68366#VAR_072716,OMIM:191110.0001C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia;
NM_006000.3(TUBA4A):c.842C>T (p.Ala281Val)7277TUBA4AUncertain significance-1RCV003139185; NMONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:8032220115579220115579NC_000002.11:g.220115579G>A-
NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro)7277TUBA4APathogenic730880029RCV000157039; NMONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:80322201159882201159882:g.220115988T>GOMIM:191110.0006,ClinGen:CA185905,UniProtKB:P68366#VAR_072714C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia;
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