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  3. SLC35D1
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Congenital disorders of glycosylation

Gene: SLC35D1

Green List (high evidence)
SLC35D1 (solute carrier family 35 member D1)
EnsemblGeneIds (GRCh38): ENSG00000116704
EnsemblGeneIds (GRCh37): ENSG00000116704
OMIM: 610804, Gene2Phenotype
SLC35D1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)
Created: 11 Mar 2021, 5:24 p.m. | Last Modified: 11 Mar 2021, 5:24 p.m.
Panel Version: 2.66
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.
Created: 19 Dec 2016, 12:05 p.m.
Created: 19 Dec 2016, 12:05 p.m.

Panel version: 0.107

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Schneckenbecken dysplasia
Created: 14 Dec 2016, 10:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Dec 2016, 10:56 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
Phenotypes
  • Schneckenbecken dysplasia OMIM:269250
  • schneckenbecken dysplasia MONDO:0010013
OMIM
610804
Clinvar variants
Variants in SLC35D1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC35D1 were changed from 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia OMIM:269250; schneckenbecken dysplasia MONDO:0010013

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC35D1 were set to 17952091; 19508970

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SLC35D1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SLC35D1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

SLC35D1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC35D1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC35D1 was created by sleigh