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  3. SLC35A2
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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Gene2Phenotype currently records a 'monoallelic' MOI for SLC35A2 for 'CONGENITAL DISORDER OF GLYCOSYLATION'. Changed MOI from 'monoallelic' to 'XLD' because SLC35A2 is on the X-chromosome.
Created: 13 Aug 2019, 12:42 p.m. | Last Modified: 13 Aug 2019, 12:42 p.m.
Panel Version: 0.338
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 2:52 p.m.
DDG2P rating in original PAGE list: Confirmed for CONGENITAL DISORDER OF GLYCOSYLATION
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.225

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
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF GLYCOSYLATION
OMIM
314375
Clinvar variants
Variants in SLC35A2
Penetrance
None
Panels with this gene

History Filter Activity

13 Aug 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Aug 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SLC35A2 was added gene: SLC35A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION