NOTCH3 Chromosome 19
Notch receptor 3
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What This Gene Does
This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Notch receptors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
19p13.12
Ensembl
ENSG00000074181
Associated Conditions (39)
Cerebral arteriopathy
autosomal dominant
with subcortical infarcts and leukoencephalopathy
type 1
Inborn genetic diseases
NOTCH3-related disorder
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Myofibromatosis
infantile
2
Lateral meningocele syndrome
Vascular dementia
Pulmonary arterial hypertension
Colon adenocarcinoma
Cerebral cavernous malformation
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
See cases
Sneddon syndrome
Auditory neuropathy
Progressive psychomotor deterioration
+19 more conditions
Key Variants
RS1014371988
Conflicting classifications of pathogenicity
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy
Health Risk
RS1030392985
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519101
Conflicting classifications of pathogenicity
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy
Health Risk
RS1064797234
Conflicting classifications of pathogenicity
Health Risk
RS111838442
Conflicting classifications of pathogenicity
Health Risk
RS113178142
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115836330
Conflicting classifications of pathogenicity
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy
Health Risk
RS1177268940
Conflicting classifications of pathogenicity
Health Risk
RS1193624610
Conflicting classifications of pathogenicity
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Health Risk
RS1209610920
Conflicting classifications of pathogenicity
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy
Health Risk
RS1216276758
Conflicting classifications of pathogenicity
Health Risk
RS1238520484
Conflicting classifications of pathogenicity
Health Risk
All Variants (392)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145433000 | Health Risk | Pathogenic | — |
| RS2145434233 | Health Risk | Pathogenic | — |
| RS2145434841 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS2145436403 | Health Risk | Pathogenic | — |
| RS2145436468 | Health Risk | Pathogenic | — |
| RS2145439776 | Health Risk | Pathogenic | — |
| RS2145439777 | Health Risk | Pathogenic | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
| RS2145439810 | Health Risk | Pathogenic | — |
| RS2145441541 | Health Risk | Pathogenic | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
| RS2145441610 | Health Risk | Pathogenic | — |
| RS2145441707 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS2145443364 | Health Risk | Pathogenic | — |
| RS2145443955 | Health Risk | Pathogenic | — |
| RS2512636728 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS2512636980 | Health Risk | Pathogenic | — |
| RS2512637780 | Health Risk | Pathogenic | — |
| RS2512646581 | Health Risk | Pathogenic | — |
| RS2512659319 | Health Risk | Pathogenic | — |
| RS2512661013 | Health Risk | Pathogenic | — |
| RS2512661152 | Health Risk | Pathogenic | — |
| RS2512665006 | Health Risk | Pathogenic | — |
| RS2512665125 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS2512665397 | Health Risk | Pathogenic | — |
| RS2512666442 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS2512672832 | Health Risk | Pathogenic | — |
| RS267606915 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS28933696 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS28933697 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS28937321 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS367543285 | Health Risk | Pathogenic | Myofibromatosis, infantile, 1 |
| RS758961316 | Health Risk | Pathogenic | — |
| RS766007350 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS773539041 | Health Risk | Pathogenic | NOTCH3-related disorder, Cerebral arteriopathy, autosomal dominant |
| RS775836288 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS781158121 | Health Risk | Pathogenic | — |
| RS796065045 | Health Risk | Pathogenic | Lateral meningocele syndrome, Lateral meningocele syndrome |
| RS797045014 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS863225297 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS864621964 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS864621965 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS864621966 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS869312909 | Health Risk | Pathogenic | Lateral meningocele syndrome, Lateral meningocele syndrome |
| RS869312910 | Health Risk | Pathogenic | Lateral meningocele syndrome, Lateral meningocele syndrome |
| RS869312911 | Health Risk | Pathogenic | Lateral meningocele syndrome, Lateral meningocele syndrome |
| RS907320913 | Health Risk | Pathogenic | — |
| RS1023306013 | Health Risk | Pathogenic/Likely pathogenic | NOTCH3-related disorder, NOTCH3-related disorder |
| RS1064794216 | Health Risk | Pathogenic/Likely pathogenic | Cerebral arterial disease, Cerebral arterial disease |
| RS1167405466 | Health Risk | Pathogenic/Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS1188569102 | Health Risk | Pathogenic/Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS1202763005 | Health Risk | Pathogenic/Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |