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This Panel is marked as Internal

Newborns main panel
Gene: SLC35A2

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 36831116 - 1 case PMID: 34161696 - 2 cases PMID: 34122512 - 4 cases PMID: 33552911 - review 65 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

David Bick confirmed XLD.
Created: 10 May 2023, 9:03 a.m. | Last Modified: 10 May 2023, 9:03 a.m.

Panel Version: 0.76

Created: 10 May 2023, 9:03 a.m.
Last Modified: 10 May 2023, 9:03 a.m.
Panel version: 0.137

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 Amber

Phenotypes

Congenital disorder of glycosylation, type IIm

OMIM

Clinvar variants

Variants in SLC35A2

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC35A2. Added phenotypes Congenital disorder of glycosylation, type IIm for gene: SLC35A2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC35A2. Added phenotypes Congenital disorder of glycosylation, type IIm for gene: SLC35A2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC35A2. Added phenotypes Congenital disorder of glycosylation, type IIm for gene: SLC35A2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC35A2. Added phenotypes Congenital disorder of glycosylation, type IIm for gene: SLC35A2 Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SLC35A2 was added gene: SLC35A2 was added to Newborns main panel. Sources: Expert Review Removed 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 Congenital disorder of glycosylation, type IIm