1. Panels
  2. Alternating Hemiplegia and Hemiplegic Migraine
  3. NOTCH3
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Alternating Hemiplegia and Hemiplegic Migraine

Gene: NOTCH3

Amber List (moderate evidence)
NOTCH3 (notch 3)
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Migraine with aura is a common feature of CADASIL and the condition can be misdiagnosed as familial hemiplegic migraine. However, can only find one family reported with a confirmed NOTCH3 variant and a diagnosis of hemiplegic migraine (PMID: 22250206).
Sources: Expert list
Created: 16 Jun 2020, 10:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310

Publications

Created: 16 Jun 2020, 10:17 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
OMIM
600276
Clinvar variants
Variants in NOTCH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: notch3 has been classified as Amber List (Moderate Evidence).

16 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: notch3 has been classified as Amber List (Moderate Evidence).

16 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NOTCH3 was added gene: NOTCH3 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Expert list Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH3 were set to 22250206; 10356105; 27881154; 28271496 Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 Review for gene: NOTCH3 was set to AMBER