Childhood solid tumours
Gene: NOTCH3
NOTCH3 (notch 3)
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
Seems to be one family reported so far with heterozygous germline variant in NOTCH3 that segregayed with Infantile myofibromatosis.Created: 17 Feb 2017, 1:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Infantile myofibromatosis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- ?Myofibromatosis, infantile 2, OMIM:615293
- OMIM
- 600276
- Clinvar variants
- Variants in NOTCH3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- CADASIL
- Adult onset leukodystrophy
- Inherited white matter disorders
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Paediatric disorders - additional genes
- Childhood solid tumours
- Familial cerebral small vessel disease
- Childhood onset hereditary spastic paraplegia
- Familial Meniere Disease
History Filter Activity
4 Jan 2024, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOTCH3 were changed from Infantile myofibromatosis to ?Myofibromatosis, infantile 2, OMIM:615293
17 Feb 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NOTCH3 was added to Paediatric congenital malformation-dysmorphism-tumour syndromespanel. Sources: Literature
17 Feb 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NOTCH3 was created by ellenmcdonagh