Inherited white matter disorders

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Over a hundred patients reported with heterozygous variants in this gene. White matter changes are part of the phenotype.
Created: 24 Jul 2018, 5:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#600276

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NOTCH3 was added to Inherited white matter disorderspanel. Sources: UKGTN

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NOTCH3 was created by ellenmcdonagh