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:12958
Name:YOU-HOOVER-FONG SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D008831|MESH:D009069
TreeNumbers:C05.660.207.620/616954 |C10.228.662/616954 |C10.500.507.400.500/616954 |C16.131.621.207.620/616954 |C16.131.666.507.400.500/616954 |F03.625.421/616954
Synonyms:YHFS
Slim Mappings:Congenital abnormality|Mental disorder|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 616954
MeSH: 616954
OMIM: 616954;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0100022Abnormality of movement
4 HP:0001344Absent speech
5 HP:0001251Ataxia
6 HP:0100704Cortical visual impairmentHP:0040283
7 HP:0001290Generalized hypotonia
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0000365Hearing impairment
11 HP:0002751Kyphoscoliosis
12 HP:0000252Microcephaly
13 HP:0000767Pectus excavatum
14 HP:0001257Spasticity
NAMDC:  Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)9894TELO2Conflicting interpretations of pathogenicityrs187225056RCV000486946|RCV001249831; NMedGen:CN517202|MONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615454031545403GA16:g.1545403G>AClinGen:CA7811624CN517202 not provided;
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg)9894TELO2Benign-1RCV001544375|RCV002071974; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN5172021615454481545448AG1545448-
NM_016111.4(TELO2):c.682+1G>A9894TELO2Likely pathogenic-1RCV001783863; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615471061547106GA1547106-
NM_016111.4(TELO2):c.682+115C>T9894TELO2Benign-1RCV001544376; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615472201547220CT1547220-
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)9894TELO2Pathogenicrs369656775RCV000225304; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615474581547458CTNC_000016.9:g.1547458C>TClinGen:CA10581571,UniProtKB:Q9Y4R8#VAR_077025,OMIM:611140.0004C4310778 616954 You-Hoover-Fong syndrome;
NM_016111.4(TELO2):c.933+11del9894TELO2Benign-1RCV001544377|RCV002071975; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN5172021615493441549344GCG1549343-
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro)9894TELO2Uncertain significance-1RCV001376043|RCV001865885; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN5172021615501301550130GC1550130-
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)9894TELO2Conflicting interpretations of pathogenicityrs202020308RCV000225284|RCV001854789|RCV000826054; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN517202|MedGen:CN1693741615504451550445GTNC_000016.9:g.1550445G>TClinGen:CA7811938,UniProtKB:Q9Y4R8#VAR_077026,OMIM:611140.0001C4310778 616954 You-Hoover-Fong syndrome;
NM_016111.4(TELO2):c.1110del (p.Gln370fs)9894TELO2Likely pathogenic-1RCV001771725; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615504541550454CAC1550453-
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)9894TELO2Uncertain significancers200293618RCV001336323; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615504741550474CT1550474-
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)9894TELO2Uncertain significancers199748546RCV001336324; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615516841551684CT1551684-
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)9894TELO2Uncertain significancers2039707751RCV001336325; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615520511552051TG1552051-
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile)9894TELO2Uncertain significance-1RCV002221388; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615527391552739GA1552739-
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)9894TELO2Conflicting interpretations of pathogenicityrs142217951RCV000496041|RCV001554922; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN5172021615529331552933TG16:g.1552933T>GClinGen:CA7812330C4310778 616954 You-Hoover-Fong syndrome;
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)9894TELO2Pathogenic/Likely pathogenicrs754162070RCV000225121|RCV000428453; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN5172021615529871552987GANC_000016.9:g.1552987G>AClinGen:CA10581572,UniProtKB:Q9Y4R8#VAR_077027,OMIM:611140.0005CN517202 not provided;
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)9894TELO2Uncertain significancers150934316RCV001330904; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615555711555571GA1555571-
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg)9894TELO2Benign-1RCV001544378|RCV001615279; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN5172021615555891555589AG1555589-
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)9894TELO2Conflicting interpretations of pathogenicityrs878853271RCV000225104|RCV000734871; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN5172021615569851556985ATNC_000016.9:g.1556985A>TClinGen:CA10581570,UniProtKB:Q9Y4R8#VAR_077028,OMIM:611140.0002C4310778 616954 You-Hoover-Fong syndrome;
NM_016111.4(TELO2):c.2226+38A>G9894TELO2Benign-1RCV001544379; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615570901557090AG1557090-
NM_016111.4(TELO2):c.2227-39C>T9894TELO2Benign-1RCV001544380; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615572681557268CT1557268-
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)9894TELO2Conflicting interpretations of pathogenicityrs371675497RCV000225221|RCV001589164|RCV001814974; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN517202|MedGen:CN1693741615576061557606GANC_000016.9:g.1557606G>AClinGen:CA7812619,UniProtKB:Q9Y4R8#VAR_077029,OMIM:611140.0003C4310778 616954 You-Hoover-Fong syndrome;
NM_016111.4(TELO2):c.2407+77A>T9894TELO2Benign-1RCV001544381; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615577941557794AT1557794-
NM_016111.4(TELO2):c.2415T>C (p.Ala805=)9894TELO2Benign-1RCV001544382|RCV002071976; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:488642|MedGen:CN5172021615598381559838TC1559838-
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)9894TELO2Uncertain significancers2040070431RCV001332107; NMONDO:MONDO:0014848,MedGen:C4310778,OMIM:616954, Orphanet:4886421615598721559872GA1559872-
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