1. Panels
  2. Fetal anomalies
  3. SLC35A1
Genes in panel
Prev Next

Fetal anomalies

Gene: SLC35A1

Amber List (moderate evidence)
SLC35A1 (solute carrier family 35 member A1)
EnsemblGeneIds (GRCh38): ENSG00000164414
EnsemblGeneIds (GRCh37): ENSG00000164414
OMIM: 605634, Gene2Phenotype
SLC35A1 is in 9 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Congenital disorder of glycosylation, type IIf (Autosomal recessive). Most CDGs are on FA panel (but not all). PMID: 30115659 two siblings born to consanguineous parents and who displayed moderate macrothrombocytopenia. They shared similar clinical presentations from birth, including delayed psychomotor development, epilepsy, ataxia, microcephaly, choreiform movements, and macrothrombocytopenia. PMID: 28856833 single patient - severe neurological phenotype, seizures 4 months - paper summarises 3 patients to date - variable and quite non-specific findings prenatally.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIf, MIM#603585

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for CONGENITAL DISORDERS OF GLYCOSYLATION
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Congenital disorder of glycosylation, type IIf, OMIM:603585
OMIM
605634
Clinvar variants
Variants in SLC35A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SLC35A1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION; Congenital disorder of glycosylation, type IIf, OMIM:603585 to Congenital disorder of glycosylation, type IIf, OMIM:603585

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SLC35A1. Added phenotypes Congenital disorder of glycosylation, type IIf, OMIM:603585 for gene: SLC35A1 Publications for gene: SLC35A1 were updated from to 28856833; 30115659

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SLC35A1 was added gene: SLC35A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION