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  3. SLC35A2
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Test MOI validation panel - do not edit

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

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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
  • Literature
Phenotypes
  • OMIM test - X-linked monoallelic MOI but SMo, XLD in OMIM
OMIM
314375
Clinvar variants
Variants in SLC35A2
Penetrance
None
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

20 Oct 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC35A2 was added gene: SLC35A2 was added to TEST mode of inheritance validation panel. 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) Phenotypes for gene: SLC35A2 were set to OMIM test - X-linked monoallelic MOI but SMo, XLD in OMIM