Malformations of cortical development
Gene: SLC35A2
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
>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: LiteratureCreated: 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
Tag Q4_22_promote_green was removed from gene: SLC35A2.
Source Expert Review Green was added to SLC35A2. Source NHS GMS was added to SLC35A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_22_expert_review was removed from gene: SLC35A2. Tag mosaicism tag was added to gene: SLC35A2. Tag somatic tag was added to gene: SLC35A2.
Phenotypes for gene: SLC35A2 were changed from Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Congenital disorder of glycosylation, type IIm, OMIM:300896
Publications for gene: SLC35A2 were set to 33407896
Gene: slc35a2 has been classified as Amber List (Moderate Evidence).
Tag Q4_22_promote_green tag was added to gene: SLC35A2. Tag Q4_22_expert_review tag was added to gene: SLC35A2.
gene: SLC35A2 was added gene: SLC35A2 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLC35A2 were set to 33407896 Phenotypes for gene: SLC35A2 were set to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Review for gene: SLC35A2 was set to AMBER