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  3. SLC35A2
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Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly

Gene: SLC35A2

Green List (high evidence)
SLC35A2 (solute carrier family 35 member A2)
EnsemblGeneIds (GRCh38): ENSG00000102100
EnsemblGeneIds (GRCh37): ENSG00000102100
OMIM: 314375, Gene2Phenotype
SLC35A2 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine individuals reported with somatic variants.
Created: 22 Mar 2021, 10:09 a.m. | Last Modified: 22 Mar 2021, 10:09 a.m.
Panel Version: 0.39

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)

Created: 22 Mar 2021, 10:09 a.m.
Last Modified: 22 Mar 2021, 10:09 a.m.
Panel version: 0.41

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

somatic variants reported in MOGHE (PMID 33407896).
Sources: Literature
Created: 22 Mar 2021, 10:06 a.m.

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
Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

Publications

Created: 22 Mar 2021, 10:06 a.m.

Panel version: 0.39

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
  • Expert Review Green
Phenotypes
  • Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Tags
somatic
OMIM
314375
Clinvar variants
Variants in SLC35A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35a2 has been classified as Green List (High Evidence).

22 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

22 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35a2 has been classified as Green List (High Evidence).

22 Mar 2021, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: SLC35A2.

22 Mar 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Shannon LeBlanc (Victorian Clinical Genetics Services)

gene: SLC35A2 was added gene: SLC35A2 was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. 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 PMID: 33407896 Phenotypes for gene: SLC35A2 were set to Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Review for gene: SLC35A2 was set to GREEN