Tumour predisposition - childhood onset

Gene: NOTCH3

Red List (low evidence)

NOTCH3 (notch 3)
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 11 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

History Filter Activity

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