Mosaic brain disorders - deep sequencing
Gene: SLC35A2EnsemblGeneIds (GRCh38): ENSG00000102100
EnsemblGeneIds (GRCh37): ENSG00000102100
OMIM: 314375, Gene2Phenotype
SLC35A2 is in 9 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Publications
- PMID: 33407896
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:35 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: mosaic. Publications: Bonduelle et al 2021 Acta Pathologica Communications. Mechanism: no information provided. Penetrance: no information provided.Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2
Phenotypes
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Congenital disorder of glycosylation, type IIm, OMIM:300896
- Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
- Tags
- OMIM
- 314375
- Clinvar variants
- Variants in SLC35A2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SLC35A2.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag somatic tag was added to gene: SLC35A2.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC35A2 were set to 23561849; 24115232; 27743886; 25778940; 30817854
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc35a2 has been classified as Green List (High Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm, OMIM:300896; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC35A2 were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: SLC35A2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: SLC35A2 was added gene: SLC35A2 was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: SLC35A2 was set to