Moyamoya disease

Gene: NOTCH3

Amber List (moderate evidence)

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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
Phenotypes
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
OMIM
600276
Clinvar variants
Variants in NOTCH3
Penetrance
Complete
Panels with this gene

History Filter Activity

1 Apr 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

NOTCH3 was added to Moyamoya diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Apr 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

NOTCH3 was added to Moyamoya diseasepanel. Sources: UKGTN,Expert list

30 Mar 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NOTCH3 was added to Moyamoya diseasepanel. Sources: Expert list

30 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NOTCH3 was created by ellenmcdonagh