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:12923
Name:Xeroderma Pigmentosum, Complementation Group E
Definition:
Alternative IDs:OMIM:278740
ParentIDs:MESH:D014983
TreeNumbers:C04.834.867/C564732 |C16.131.831.936/C564732 |C16.320.850.970/C564732 |C17.800.600.925/C564732 |C17.800.621.936/C564732 |C17.800.804.936/C564732 |C17.800.827.970/C564732 |C18.452.284.975/C564732
Synonyms:Xeroderma Pigmentosum V |XP5 |XPE |XP, Group E
Slim Mappings:Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: C564732
MeSH: C564732
OMIM: 278740;
MSeqDR LSDB:  
Genes: DDB2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002671Basal cell carcinoma
3 HP:0000509Conjunctivitis
4 HP:0000992Cutaneous photosensitivity
5 HP:0003079Defective DNA repair after ultraviolet radiation damage
6 HP:0004334Dermal atrophy
7 HP:0000656Ectropion
8 HP:0000621Entropion
9 HP:0000491Keratitis
10 HP:0002861Melanoma
11 HP:0000613Photophobia
12 HP:0001029Poikiloderma
13 HP:0006739Squamous cell carcinoma of the skin
14 HP:0001009Telangiectasia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000107.3(DDB2):c.-143A>G1643DDB2Uncertain significancers981369560RCV001102720; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723654547236545AG11:g.47236545A>G-
NM_000107.3(DDB2):c.-123T>G1643DDB2Uncertain significancers565058800RCV000371303; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723656547236565TG11:g.47236565T>GClinGen:CA10638707
NM_000107.3(DDB2):c.-120G>A1643DDB2Benignrs4647707RCV000402377|RCV001672450; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910|MedGen:CN517202114723656847236568GA11:g.47236568G>AClinGen:CA10630995
NM_000107.3(DDB2):c.-120G>C1643DDB2Uncertain significancers4647707RCV001104631; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723656847236568GC11:g.47236568G>C-
NM_000107.3(DDB2):c.-56A>G1643DDB2Uncertain significancers777159854RCV000299129; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723663247236632AG11:g.47236632A>GClinGen:CA10638708
NM_000107.3(DDB2):c.-36G>A1643DDB2Uncertain significancers201317629RCV001104632; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723665247236652GA11:g.47236652G>A-
NM_000107.3(DDB2):c.52C>T (p.Arg18Cys)1643DDB2Uncertain significance-1RCV001788985; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723673947236739CT47236739-
NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)1643DDB2Uncertain significancers373622283RCV001104633; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723674647236746GA11:g.47236746G>A-
NM_000107.3(DDB2):c.127+5T>G1643DDB2Conflicting interpretations of pathogenicityrs199965459RCV000860803|RCV001104634|RCV001579936; NMedGen:CN517202|MONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910|MedGen:CN169374114723681947236819TG11:g.47236819T>G-
NM_000107.3(DDB2):c.254C>G (p.Ser85Cys)1643DDB2Uncertain significancers770922074RCV001104635; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723801347238013CG11:g.47238013C>G-
NM_000107.3(DDB2):c.254C>A (p.Ser85Tyr)1643DDB2Uncertain significance-1RCV001761917; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723801347238013CA47238013-
NM_000107.3(DDB2):c.264+8A>G1643DDB2Conflicting interpretations of pathogenicityrs374094218RCV000263888|RCV000932733; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910|MedGen:CN517202114723803147238031AG11:g.47238031A>GClinGen:CA5972465
NM_000107.3(DDB2):c.414C>G (p.Leu138=)1643DDB2Uncertain significancers1953409225RCV001107377; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114723855847238558CG11:g.47238558C>G-
NM_000107.3(DDB2):c.457-7G>A1643DDB2Uncertain significancers375645261RCV001107378; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725435847254358GA11:g.47254358G>A-
NM_000107.3(DDB2):c.511C>G (p.Gln171Glu)1643DDB2Conflicting interpretations of pathogenicityrs201703288RCV000950762|RCV001293007; NMedGen:CN517202|MONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725441947254419CG11:g.47254419C>G-
NM_000107.3(DDB2):c.533A>C (p.Glu178Ala)1643DDB2Uncertain significancers760322280RCV001107379; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725444147254441AC11:g.47254441A>C-
NM_000107.3(DDB2):c.574C>T (p.Arg192Ter)1643DDB2Pathogenic-1RCV001761916; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725448247254482CT47254482-
NM_000107.3(DDB2):c.577G>A (p.Val193Ile)1643DDB2Likely benignrs200406558RCV000319017; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725448547254485GA11:g.47254485G>AClinGen:CA5972549
NM_000107.3(DDB2):c.652A>G (p.Thr218Ala)1643DDB2Uncertain significance-1RCV001761915; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725617347256173AG47256173-
NM_000107.3(DDB2):c.694G>A (p.Gly232Ser)1643DDB2Uncertain significance-1RCV001761914; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725621547256215GA47256215-
NM_000107.3(DDB2):c.702+12G>A1643DDB2Uncertain significancers55847708RCV000359705; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725623547256235GA11:g.47256235G>AClinGen:CA5972594
NM_000107.3(DDB2):c.730A>G (p.Lys244Glu)1643DDB2Pathogenicrs121434639RCV000009332; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725633547256335AG11:g.47256335A>GClinGen:CA254554,UniProtKB:Q92466#VAR_010141,OMIM:600811.0001C1848411 278740 Xeroderma pigmentosum, group E;
NM_000107.3(DDB2):c.738G>A (p.Thr246=)1643DDB2Benign/Likely benignrs144266685RCV000265018|RCV000860982; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910|MedGen:CN517202114725634347256343GA11:g.47256343G>AClinGen:CA5972616
NM_000107.3(DDB2):c.818G>A (p.Arg273His)1643DDB2Pathogenicrs121434640RCV000009333; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725642347256423GA11:g.47256423G>AClinGen:CA254556,UniProtKB:Q92466#VAR_010142,OMIM:600811.0002C1848411 278740 Xeroderma pigmentosum, group E;
NM_000107.3(DDB2):c.852G>A (p.Ser284=)1643DDB2Uncertain significancers1953702034RCV001107380; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725645747256457GA11:g.47256457G>A-
NM_000107.3(DDB2):c.876C>T (p.Asn292=)1643DDB2Uncertain significancers778504979RCV000323831; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725648147256481CT11:g.47256481C>TClinGen:CA5972635
NM_000107.3(DDB2):c.905G>A (p.Arg302Gln)1643DDB2Uncertain significancers761699363RCV000378472; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725684547256845GA11:g.47256845G>AClinGen:CA5972656
NM_000107.3(DDB2):c.914C>A (p.Thr305Asn)1643DDB2Uncertain significancers886048361RCV000288705; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725685447256854CA11:g.47256854C>AClinGen:CA10639284
NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr)1643DDB2Pathogenicrs121434642RCV000009335; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725685947256859GT11:g.47256859G>TClinGen:CA254561,OMIM:600811.0004C1848411 278740 Xeroderma pigmentosum, group E;
NM_000107.3(DDB2):c.930C>T (p.Ser310=)1643DDB2Uncertain significancers549041558RCV000324996; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725687047256870CT11:g.47256870C>TClinGen:CA5972662
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter)1643DDB2Pathogenicrs121434641RCV000009334; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725687747256877CT11:g.47256877C>TClinGen:CA254558,OMIM:600811.0003C1848411 278740 Xeroderma pigmentosum, group E;
NM_000107.3(DDB2):c.979A>T (p.Ile327Phe)1643DDB2Uncertain significancers776075728RCV000384321; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725691947256919AT11:g.47256919A>TClinGen:CA5972672
NM_000107.3(DDB2):c.984G>A (p.Pro328=)1643DDB2Uncertain significancers138255134RCV000289960; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725692447256924GA11:g.47256924G>AClinGen:CA5972674
NM_000107.3(DDB2):c.1023+9C>T1643DDB2Uncertain significancers372842821RCV000349656; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725697247256972CT11:g.47256972C>TClinGen:CA5972680
NM_000107.3(DDB2):c.1053T>C (p.Ile351=)1643DDB2Conflicting interpretations of pathogenicityrs61741581RCV000957633|RCV001108033; NMedGen:CN517202|MONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725941747259417TC11:g.47259417T>C-
NM_000107.3(DDB2):c.1070C>T (p.Pro357Leu)1643DDB2Uncertain significancers780665825RCV000402938; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725943447259434CT11:g.47259434C>TClinGen:CA5972706
NM_000107.3(DDB2):c.1180A>G (p.Ile394Val)1643DDB2Uncertain significancers886048362RCV000296495; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725954447259544AG11:g.47259544A>GClinGen:CA10638710
NM_000107.3(DDB2):c.1189-21T>C1643DDB2Benign-1RCV001635586|RCV001658350; NMedGen:CN517202|MONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725966847259668TC47259668-
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)1643DDB2Conflicting interpretations of pathogenicityrs143049891RCV000120630|RCV000861341|RCV001102816; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114725972847259728GA11:g.47259728G>AClinGen:CA158255CN169374 not specified;
NM_000107.3(DDB2):c.1235-32A>G1643DDB2Benign-1RCV001540501|RCV001658262; NMedGen:CN517202|MONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114726031947260319AG47260319-
NM_000107.3(DDB2):c.*7C>T1643DDB2Uncertain significancers763312773RCV001102817; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114726040747260407CT11:g.47260407C>T-
NM_000107.3(DDB2):c.*13A>G1643DDB2Uncertain significance-1RCV001761918; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114726041347260413AG47260413-
NM_000107.3(DDB2):c.*77C>T1643DDB2Benignrs1050244RCV000393317|RCV001612962; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910|MedGen:CN517202114726047747260477CT11:g.47260477C>TClinGen:CA10639289
NM_000107.3(DDB2):c.*126T>C1643DDB2Uncertain significancers554676341RCV000297640; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114726052647260526TC11:g.47260526T>CClinGen:CA10638712
NM_000107.3(DDB2):c.*142A>G1643DDB2Uncertain significancers923041619RCV001102818; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114726054247260542AG11:g.47260542A>G-
NM_000107.3(DDB2):c.*151C>A1643DDB2Benign/Likely benignrs4647760RCV000357057|RCV001576654; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910|MedGen:CN517202114726055147260551CA11:g.47260551C>AClinGen:CA10635047
NM_000107.3(DDB2):c.*287T>G1643DDB2Uncertain significancers554393001RCV001102819; NMONDO:MONDO:0010213,MedGen:C1848411,OMIM:278740, Orphanet:910114726068747260687TG11:g.47260687T>G-
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