Inherited white matter disorders

Gene: VPS11

Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. This gene is also rated Green on the Genetic epilepsy syndromes (Version 2.339).

It is also on the White matter disorders and cerebral calcification - narrow panel (Version 1.69) as an Amber gene with a recommendation to be promoted to Green. The following review is present:

"Recurrent homozygous variant, p.Cys846Gly identified in more than 10 families of Ashkenazi Jewish descent. One other variant reported in another family in PMID 27473128. Functional data.
Zornitza Stark (Australian Genomics), 16 Sep 2020"

There is enough evidence to support a gene-disease association.

Created: 6 May 2021, 3:46 p.m. | Last Modified: 6 May 2021, 3:46 p.m.

Panel Version: 1.94

Comment on list classification: This gene is awaiting curator evaluation and rating.

Created: 19 Dec 2018, 1:05 p.m.

Green List (high evidence)

Recurrent homozygous variant identified in multiple unrelated Ashkenazi Jewish families.

Created: 24 Jul 2018, 12:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 12, MIM#616683

Publications

• 26307567, 27120463

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