Malformations of cortical development

Gene: SLC35A2

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 11 Oct 2023, 11:04 a.m. | Last Modified: 11 Oct 2023, 11:04 a.m.

Panel Version: 4.8

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Comment on list classification: There is sufficient evidence to support this gene-disease association and regardless of ability to detect somatic variants via this panel, there are enough cases with germline variants to warrant inclusion with a Green classification. Somatic cases should be picked up via other routes such as R429 'Mosaic brain disorders - deep sequencing' which is catered to somatic variant detection.

Created: 22 Dec 2022, 12:41 p.m. | Last Modified: 22 Dec 2022, 12:41 p.m.

Panel Version: 3.6

I don't know

>20 individuals reported. However note variants were identified on deep sequencing of affected tissue, and are somatic. Rated as Amber as uncertain whether panel only caters to germline sequencing.
Sources: Literature

Created: 17 Apr 2021, 1:33 a.m. | Last Modified: 17 Apr 2021, 1:34 a.m.

Panel Version: 2.44

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

Publications

• 33407896